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Retinal disorders

Gene: AHI1

Green List (high evidence)

AHI1 (Abelson helper integration site 1)
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 22 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome-3

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:03 a.m.
Comment on mode of inheritance: Biallelic for association with Joubert syndrome.
Created: 15 Mar 2016, 10:41 a.m.

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AHI1 were changed from Eye Disorders; Joubert syndrome 17 to Eye Disorders; Joubert syndrome 3, 608629

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AHI1. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AHI1 were set to Eye Disorders; Joubert syndrome 17

15 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AHI1 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AHI1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green