Rare multisystem ciliopathy disorders
Gene: ALMS1Addressing Red review from Beth Hoskins, imported from Bardet-Biedl Syndrome panel: ALMS1 is appropriate for this panel: Confirmed DDG2P gene for ALSTROM SYNDROME (a Ciliopathy) and sufficient cases from the literature/OMIM to support inclusion.Created: 20 Jun 2019, 8:54 p.m. | Last Modified: 20 Jun 2019, 9:08 p.m.
Panel Version: 1.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
203800
Publications
Comment on list classification: Is rated green on the Version 1 Bardet-Biedl Syndrome panel and is a confirmed DD gene for Alstrom syndrome.Created: 4 Aug 2016, 3:36 p.m.
Comment on list classification: Alstrom syndromeCreated: 17 Dec 2015, 2:37 p.m.
ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
Promoted to version 1 by Alice Gardham on 26th January 2017
ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Source: UKGTN
This gene has been classified as Green List (High Evidence).
Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome; 203800
Publications for ALMS1 were set to 22773737
This gene has been classified as Green List (High Evidence).
ALMS1 was created by ellenmcdonagh
ALMS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list