ALMS1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ALMS1 (HGNC:428) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ALMS1 centrosome and basal body associated protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0328
- %HI
- 78.65(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.87(Read more about gnomAD LOEUF score)
- Cytoband
- 2p13.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:73612886-73837046 NCBI Ensembl UCSC GRCh38/hg38: chr2:73385758-73609919 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001378454.1 ENST00000613296.6 (Read more about MANE Select)
- Function
- Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. {ECO:0000269|PubMed:17954613}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12813
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Alstrom syndrome Monarch
HI Evidence Comments:
Variants in ALMS1 have been reported in association with Alstrom syndrome, an autosomal recessive condition. Furthermore, the overall evidence that ALMS1, when altered, causes Alstrom syndrome has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)