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Intellectual disability syndromic and non-syndromic

Gene: AVPR1A

Red List (low evidence)

AVPR1A (arginine vasopressin receptor 1A)
EnsemblGeneIds (GRCh38): ENSG00000166148
EnsemblGeneIds (GRCh37): ENSG00000166148
OMIM: 600821, Gene2Phenotype
AVPR1A is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID GCEP on 01/03/2022- https://search.clinicalgenome.org/CCID:004223
Created: 13 May 2024, 12:02 a.m. | Last Modified: 13 May 2024, 12:02 a.m.
Panel Version: 0.5798

Mode of inheritance
Unknown

Phenotypes
autism spectrum disorder MONDO:0005258

Publications

  • https://search.clinicalgenome.org/CCID:004223

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence currently for Mendelian disease association.
Created: 23 Nov 2019, 9:41 a.m. | Last Modified: 23 Nov 2019, 9:41 a.m.
Panel Version: 0.5

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Tags
disputed
OMIM
600821
Clinvar variants
Variants in AVPR1A
Penetrance
None
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: AVPR1A.

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: avpr1a has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: avpr1a has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AVPR1A was added gene: AVPR1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AVPR1A was set to Unknown