Intellectual disability - microarray and sequencing
Gene: ATP6V0C
Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.Created: 23 Aug 2023, 9:28 p.m. | Last Modified: 23 Aug 2023, 9:29 p.m.
Panel Version: 5.261
PMID:36074901 - 16 of 27 patients identified with monoallelic ATP6V0C variants, including a patient each from PMID:24623842 and PMID:33190975 had impaired intellectual development, while 21 patients had developmental delay.
PMID:37161035 - One of three patients identified with monoallelic ATP6V0C variant had impaired intellectual development and language delay, while another had developmental delay and speech delay.
This gene has been associated with relevant phenotypes in OMIM (MIM #620465) and Gene2Phenotype (with 'strong' rating in the DD panel).Created: 23 Aug 2023, 9:12 p.m. | Last Modified: 23 Aug 2023, 9:23 p.m.
Panel Version: 5.257
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Publications
Twenty seven patients reported in 2023 by Mattison et al (including those from the earlier papers in 2014 and 2021). De novo heterozygous missense, frameshift, and one stop-loss variant reported. Haploinsufficiency reported as the most likely mechanism, but a dominant-negative effect is also postulated. At least four cases of mosaicism detected.
Highly variable condition with epilepsy and/or intellectual disability as the main features. Microcephaly and non-specific dysmorphic features in some cases. Incomplete penetrance in some families.Created: 21 Aug 2023, 2:18 p.m. | Last Modified: 21 Aug 2023, 2:18 p.m.
Panel Version: 5.256
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy; Intellectual Disability; Microcephaly
Publications
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 13 Oct 2021, 12:39 p.m. | Last Modified: 13 Oct 2021, 12:39 p.m.
Panel Version: 3.1354
9 individuals reported with deletions and ID/seizures/microcephaly, minimum overlapping region implicates ATP6V0C as the causative gene. Single case report of de novo SNV and ID/seizures.
Sources: LiteratureCreated: 11 Oct 2021, 7:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy; Intellectual Disability; microcephaly
Publications
Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Tag watchlist was removed from gene: ATP6V0C. Tag Q3_23_promote_green tag was added to gene: ATP6V0C. Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
Publications for gene: ATP6V0C were set to 33190975; 33090716
Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: ATP6V0C.
gene: ATP6V0C was added gene: ATP6V0C was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to 33190975; 33090716 Phenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly Review for gene: ATP6V0C was set to AMBER