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WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
Introduction WD repeat domain 45 (WDR45) is located on Xp11.23 and encodes a protein that functions in the autophagy pathw...
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumour predisposition syndrome caused by pathogenic vari...
Classification of PTEN germline non-truncating variants: a new approach to interpretation
Classification of PTEN germline non-truncating variants: a new approach to interpretation
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Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
WHAT IS ALREADY KNOWN ON THIS TOPICExisting evidence describes how universal reflex mismatch repair tumour testing, compar...
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
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Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing
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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
IntroductionEnsuring that people affected by rare diseases receive the right diagnosis faster has been identified as the f...
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome
In children, 15% of nephrotic syndromes are steroid-resistant (SRNS); approximately 30% of early onset SRNS have a genetic...
Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing
Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing
WHAT IS ALREADY KNOWN ON THIS TOPICThere are inconsistencies and a lack of guidance on recontacting for reinterpretation o...
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dube syndrome
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dube syndrome
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal disorder, primarily characterised in adults by cutaneous features, pulm...
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
Duchenne muscular dystrophy (DMD) is a commonly encountered genetic ailment marked by loss-of-function mutations in the Dy...
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
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Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data
IntroductionGene panel testing for cancer susceptibility is now an important part of clinical practice. To provide reliabl...
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
Referenced paragraphWe present five children all carrying a germline c.325T>A, p.(Phe109Ile) variant in the TP53 gene. ...
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
Introductionvon Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disorder associated with pat...
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
Pathogenic variants in the MED13L gene are associated with the autosomal dominant MED13L syndrome, which is characterised ...
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
CS-associated mutationsIn total, 37 distinct families were enrolled with 44 affected males. 31 unique mutations were ident...
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
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Biallelic variants in {alpha}-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
Biallelic variants in {alpha}-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
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Male-female phenotype correlation and dissociation related to mutations in the ARX gene
Male-female phenotype correlation and dissociation related to mutations in the ARX gene
I read with interest the case series and review article ‘Further characterisation of ARX-related disorders in females due ...
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2, which encodes an evolutionarily conserved tran...
Genetics of prostate cancer: a review of latest evidence
Genetics of prostate cancer: a review of latest evidence
The UK Cancer Genomic National Test Directory outlines eligibility for genomic testing funded by the NHS. The directory wa...
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
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Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline genetic testing for pathogenic variants (PVs) in breast cancer (BC) genes is currently triggered by algorithms th...
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
MITF c.952G>A (p.E318K) (the variant nomenclature is reported by MANE Plus Clinical as MITF NM_000248.4:c.952G>A (p...
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
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Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
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Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
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