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Intellectual disability

Gene: ATP6V0C

Green List (high evidence)
ATP6V0C (ATPase H+ transporting V0 subunit c)
EnsemblGeneIds (GRCh38): ENSG00000185883
EnsemblGeneIds (GRCh37): ENSG00000185883
OMIM: 108745, Gene2Phenotype
ATP6V0C is in 5 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 23 Aug 2023, 9:12 p.m.
Last Modified: 23 Aug 2023, 9:29 p.m.
Panel version: 5.257

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

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

Created: 21 Aug 2023, 2:18 p.m.
Last Modified: 21 Aug 2023, 2:18 p.m.
Panel version: 5.256

Ivone Leong (Genomics England Curator)

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
Created: 13 Oct 2021, 12:39 p.m.
Last Modified: 13 Oct 2021, 12:39 p.m.
Panel version: 3.1354

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 11 Oct 2021, 7:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy; Intellectual Disability; microcephaly

Publications

Created: 11 Oct 2021, 7:26 a.m.

Panel version: 3.1332

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
OMIM
108745
Clinvar variants
Variants in ATP6V0C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: ATP6V0C. Tag Q3_23_NHS_review was removed from gene: ATP6V0C.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATP6V0C. Source NHS GMS was added to ATP6V0C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: atp6v0c has been classified as Amber List (Moderate Evidence).

23 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: atp6v0c has been classified as Amber List (Moderate Evidence).

23 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: atp6v0c has been classified as Amber List (Moderate Evidence).

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Aug 2023, Gel status: 2

Removed Tag, Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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.

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035

23 Aug 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ATP6V0C were set to 33190975; 33090716

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atp6v0c has been classified as Amber List (Moderate Evidence).

13 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ATP6V0C.

11 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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