Proteinuric renal disease
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ALMS1; Suggested initial gene rating: amber; Evidence for inclusion: PMID25846608; Other comments: Gene associated with Alstrom syndrome; proteinuria and ESRD can be associated with the syndromeCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom Syndrome #203800
Publications
- PMID25846608
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic only - not for this panel.Created: 16 May 2016, 8:14 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 testedCreated: 19 Oct 2015, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Alstrom Syndrome #203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Limb disorders
- Alstrom syndrome
- Retinal disorders
- Structural eye disease
- Severe early-onset obesity
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Monogenic diabetes
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Intellectual disability
- DDG2P
- Glaucoma (developmental)
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ALMS1 were changed from to Alstrom Syndrome #203800
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ALMS1 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ALMS1.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing