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Congenital myopathy v3.45 HACD1 Arina Puzriakova Phenotypes for gene: HACD1 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, nonprogressive, OMIM:619967
Congenital myopathy v3.14 HACD1 Eleanor Williams Tag Q2_21_rating was removed from gene: HACD1.
Congenital myopathy v3.14 HACD1 Eleanor Williams reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.13 HACD1 Eleanor Williams Source Expert Review Green was added to HACD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.86 HACD1 Sarah Leigh reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.83 HACD1 Tracy Lester reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512, 33354762; Phenotypes: Hypotonia, muscle weakness, motor delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.43 HACD1 Ivone Leong Tag watchlist was removed from gene: HACD1.
Tag Q2_21_rating tag was added to gene: HACD1.
Congenital myopathy v2.43 HACD1 Ivone Leong edited their review of gene: HACD1: Added comment: This gene is associated with a relevant phenotype in Gene2Phenotype and not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: GREEN
Congenital myopathy v2.43 HACD1 Ivone Leong Phenotypes for gene: HACD1 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Congenital myopathy v2.42 HACD1 Ivone Leong Added comment: Comment on publications: PMID: 33354762. Three additional cases.
Congenital myopathy v2.42 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735; 15829503; 32426512; 33354762
Congenital myopathy v2.41 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735; 15829503; 32426512
Congenital myopathy v2.40 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735
Congenital myopathy v2.5 HACD1 Zornitza Stark reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512; Phenotypes: Congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.149 HACD1 Anna Sarkozy edited their review of gene: HACD1: Added comment: variants were described in a single family in literature. no further confirmation to date; Changed rating: AMBER
Congenital myopathy v1.120 HACD1 Rachael Mein edited their review of gene: HACD1: Changed publications: 23933735; Changed phenotypes: congenital myopathy
Congenital myopathy v1.76 HACD1 Louise Daugherty reviewed gene: HACD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 HACD1 Rachael Mein reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: Arthrogryposis, distal, type 5D, 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 HACD1 Louise Daugherty Source NHS GMS was added to HACD1.
Congenital myopathy v1.73 HACD1 Louise Daugherty Source London South GLH was added to HACD1.
Congenital myopathy HACD1 Helen Brittain marked HACD1 as ready
Congenital myopathy HACD1 Helen Brittain classified HACD1 as amber
Congenital myopathy HACD1 Helen Brittain commented on HACD1
Congenital myopathy HACD1 Anna Sarkozy reviewed HACD1