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Intellectual disability

Gene: AGTR2

Red List (low evidence)

AGTR2 (angiotensin II receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000180772
EnsemblGeneIds (GRCh37): ENSG00000180772
OMIM: 300034, Gene2Phenotype
AGTR2 is in 4 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

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

Phenotypes
X-LINKED MENTAL RETARDATION 88

Publications

  • 0

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Variants previously associated with mental retardation have now been reclassified as VUS. OMIM associaton removed. Grey no evidence for ID.
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
Unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 88, 300852
  • X-LINKED MENTAL RETARDATION 88
OMIM
300034
Clinvar variants
Variants in AGTR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AGTR2.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AGTR2 was set to Unknown Publications for gene AGTR2 was set to ['23871722']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR2 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen