Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: AGTR2

Red List (low evidence)

AGTR2 (angiotensin II receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000180772
EnsemblGeneIds (GRCh37): ENSG00000180772
OMIM: 300034, Gene2Phenotype
AGTR2 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

DISPUTED classification by ClinGen ID and Autism GCEP on 02/06/2020 - https://search.clinicalgenome.org/CCID:004075
Created: 9 May 2024, 1:19 a.m. | Last Modified: 9 May 2024, 1:19 a.m.
Panel Version: 0.5797

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked complex neurodevelopmental disorder MONDO:0100148

Publications

  • https://search.clinicalgenome.org/CCID:004075

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence currently for Mendelian disease association.
Created: 23 Nov 2019, 3:09 a.m. | Last Modified: 23 Nov 2019, 3:09 a.m.
Panel Version: 0.0

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
disputed
OMIM
300034
Clinvar variants
Variants in AGTR2
Penetrance
None
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGTR2 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148

13 May 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AGTR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

13 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: AGTR2.

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agtr2 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: agtr2 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: AGTR2 was added gene: AGTR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AGTR2 was set to Unknown