Muscular dystrophy and myopathy_Paediatric
Gene: ATP6V1AComment when marking as ready: CK markedly raised in some.Created: 21 Jun 2021, 3:41 a.m. | Last Modified: 21 Jun 2021, 3:41 a.m.
Panel Version: 0.91
3 families were reported with elevated CK levels in patients with cutis laxa AR phenotype
Sources: LiteratureCreated: 21 Jun 2021, 1:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012
Publications
Gene: atp6v1a has been classified as Green List (High Evidence).
Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 to Cutis laxa, autosomal recessive, type IID MIM#617403
Gene: atp6v1a has been classified as Green List (High Evidence).
gene: ATP6V1A was added gene: ATP6V1A was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to PMID: 28065471; 33320377 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 Review for gene: ATP6V1A was set to GREEN