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Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh Tag Q3_23_promote_green was removed from gene: COL4A1.
Tag Q3_23_NHS_review was removed from gene: COL4A1.
Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Insufficient evidence for CMD, however decision may be different for other panels as been implicated with muscle cramps.
Congenital muscular dystrophy v4.28 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.19 COL4A1 Eleanor Williams Tag Q3_23_NHS_review tag was added to gene: COL4A1.
Congenital muscular dystrophy v4.13 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from Walker Warburg Syndrome to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Congenital muscular dystrophy v4.12 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620; 18160688; 20818663
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: COL4A1.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: Based on the review published by Rannikmäe et al (PMID: 32842921), numerous COL4A1 variants have been associated with muscle phenotypes (supplementary table IIIA).; Changed rating: GREEN; Changed publications to: 32842921
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Classified gene: COL4A1 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.10 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620
Congenital muscular dystrophy v4.9 COL4A1 Gavin Ryan reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18160688, 20818663; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v3.32 COL4A1 Arina Puzriakova Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780 to Walker Warburg Syndrome
Congenital muscular dystrophy v1.64 COL4A1 Louise Daugherty Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease to walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780
Congenital muscular dystrophy v1.44 COL4A2 Louise Daugherty Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604
Congenital muscular dystrophy v1.43 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.24 COL4A1 Rachael Mein reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28056338, 22037604, 21625620; Phenotypes: walker warburg syndrome, muscle eye brain disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital muscular dystrophy v1.23 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Congenital muscular dystrophy v1.22 COL4A1 Louise Daugherty Source London South GLH was added to COL4A1.
Congenital muscular dystrophy COL4A1 Ellen McDonagh marked COL4A1 as ready
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy COL4A1 Arianna Tucci reviewed COL4A1
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy COL4A1 Ellen McDonagh commented on COL4A1
Congenital muscular dystrophy COL4A1 Emma Clement commented on COL4A1
Congenital muscular dystrophy COL4A1 Emma Clement reviewed COL4A1