Muscular dystrophy and myopathy_Paediatric
Gene: CNTN1
PMID: 10926398
single family reported with clinical features consistent with severe lethal myopathy
(age of onset is unknown as only one family has been reported)
Sources: OtherCreated: 8 May 2023, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540)
Publications
One family with lethal congenital myopathy and a null mouse model with ataxia, progressive muscle weakness, and postnatal lethality, reported in 2008.
Sources: Expert listCreated: 10 Feb 2020, 3:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Compton-North MIM#612540
Publications
Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.Created: 3 Feb 2020, 11:30 p.m. | Last Modified: 3 Feb 2020, 11:30 p.m.
Panel Version: 0.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Compton-North 612540
Publications
Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Gene: cntn1 has been classified as Amber List (Moderate Evidence).
gene: CNTN1 was added gene: CNTN1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 10926398 Phenotypes for gene: CNTN1 were set to Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540) Review for gene: CNTN1 was set to AMBER