Proteinuric renal disease
Gene: ALMS1
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Syndromic only - not for this panel.Created: 16 May 2016, 8:14 p.m.
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
Phenotypes for gene: ALMS1 were changed from to Alstrom Syndrome #203800
Publications for gene: ALMS1 were set to
Source NHS GMS was added to ALMS1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ALMS1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ALMS1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing