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Retinal disorders

Gene: ALMS1

Green List (high evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 26 panels

4 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alstrom syndrome

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

Comment on list classification: Alstrom syndrome gene; syndromic forms have been included in this panel.
Created: 7 Jun 2016, 11:55 a.m.

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALMS1. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Eye Disorders; Alstrom syndrome

15 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALMS1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green