ClinGen Gene Validity Curations

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 27 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 10/13/2016) and DEFINITIVE by Expert curation, reviewed by the ClinGen Hearing Loss Working Group (dated 02/10/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/6238.
Created: 12 Apr 2017, 2:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

12 Apr 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstrom syndrome; ORPHA64; OMIM:203800

12 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to ClinGen Gene Validity Curationspanel. Sources: Other

12 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALMS1 was created by ellenmcdonagh