Limb disorders
Gene: PROM1
PROM1 (prominin 1)
EnsemblGeneIds (GRCh38): ENSG00000007062
EnsemblGeneIds (GRCh37): ENSG00000007062
OMIM: 604365, Gene2Phenotype
PROM1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000007062
EnsemblGeneIds (GRCh37): ENSG00000007062
OMIM: 604365, Gene2Phenotype
PROM1 is in 5 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment when marking as ready: No evidence that this gene is associated with a limb phenotype.Created: 29 Nov 2018, 1:24 p.m.
Checked with VCGS. They were not sure why this gene had been included in their list of polydactyly genes. So keep red rating.Created: 29 Nov 2018, 1:24 p.m.
Sarah Leigh (Genomics England Curator)
No apparent association with Limb disorders in OMIM, G2P or in the literature. Contact VCGS for evidence the presence of this gene on the panel.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- OMIM
- 604365
- Clinvar variants
- Variants in PROM1
- Penetrance
- None
- Panels with this gene
History Filter Activity
11 Dec 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: No apparent association with L
29 Nov 2018, Gel status: 1
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: prom1 has been classified as Red List (Low Evidence).
7 Nov 2018, Gel status: 1
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to PROM1. Mode of inheritance for gene PROM1 was changed from to Unknown
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PROM1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PROM1 was created by Ellen McDonagh