06 Feb 2023
Congenital myopathy v3.117
VCP
Arina Puzriakova Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
03 Feb 2023
Congenital myopathy v3.76
MYOT
Arina Puzriakova Phenotypes for gene: MYOT were changed from Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
03 Feb 2023
Congenital myopathy v3.60
MATR3
Arina Puzriakova Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 606070 to Amyotrophic lateral sclerosis 21, OMIM:606070
03 Feb 2023
Congenital myopathy v3.30
CHCHD10
Arina Puzriakova Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048 to Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911; Spinal muscular atrophy, Jokela type, OMIM:615048
05 Jul 2022
Congenital myopathy v2.84
MTM1
Arina Puzriakova Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked 310400
09 Nov 2021
Congenital myopathy v2.67
DMPK_CTG
Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
09 Nov 2021
Congenital myopathy v2.66
DMPK
Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
03 May 2019
Congenital myopathy v1.120
MTM1
Rachael Mein edited their review of gene: MTM1: Changed publications: 8640223; Changed phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400
30 Apr 2019
Congenital myopathy v1.75
MYBPC3
Rachael Mein reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640223; Phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
06 Mar 2017
Congenital myopathy
MYOT
Anna Sarkozy reviewed MYOT
03 Feb 2017
Congenital myopathy
MYOT
Helen Brittain marked MYOT as ready
03 Feb 2017
Congenital myopathy
MYOT
Helen Brittain classified MYOT as red
26 Jan 2017
Congenital myopathy
MYOT
Helen Brittain reviewed MYOT