Renal ciliopathies
Gene: ALMS1
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
After consultation with the Genomics England rare disease clinical team it has been agreed that the phenotype is not typical of renal ciliopathy and so it should be downgraded to RED at the next major review. It is green on the Ophthalmological ciliopathies panel and so will still be included in the Rare multisystem ciliopathy Super panel.Created: 7 Jul 2020, 10:22 a.m. | Last Modified: 7 Jul 2020, 10:22 a.m.
Panel Version: 1.23
This condition tends to cause a neprhritis/nephropathy rather than cysts so we don't think it is appropriate for this panel.Created: 3 Jan 2020, 3:31 a.m. | Last Modified: 3 Jan 2020, 3:31 a.m.
Panel Version: 1.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome
Addressing 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.
Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800
Tag for-review was removed from gene: ALMS1.
Tag for-review tag was added to gene: ALMS1.
gene: ALMS1 was added gene: ALMS1 was added to Renal ciliopathies. Sources: Expert list,UKGTN,Eligibility statement prior genetic testing,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 22773737 Phenotypes for gene: ALMS1 were set to Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome