Retinal disorders
Gene: ALMS1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Alstrom syndrome gene; syndromic forms have been included in this panel.Created: 7 Jun 2016, 11:55 a.m.
Comment on list classification: Is it a confirmed DD gene for Alstrom syndrome, and has multiple cases with multiple different variants reported on OMIM.Created: 2 Jun 2016, 11:46 a.m.
This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.Created: 2 Jun 2016, 8:03 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 15 Mar 2016, 10:45 a.m.
Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800
Source NHS GMS was added to ALMS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ALMS1 were set to Eye Disorders; Alstrom syndrome
Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
ALMS1 was created by ellenmcdonagh
ALMS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green