Polydactyly
Gene: PROM1

PROM1 (prominin 1)
EnsemblGeneIds (GRCh38): ENSG00000007062
EnsemblGeneIds (GRCh37): ENSG00000007062
OMIM: 604365, Gene2Phenotype
PROM1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find link with polydactyly.
Created: 21 Jul 2020, 1:36 p.m. | Last Modified: 21 Jul 2020, 1:36 p.m.

Panel Version: 0.118

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MIM# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786

Created: 21 Jul 2020, 1:36 p.m.
Last Modified: 21 Jul 2020, 1:36 p.m.
Panel version: 0.118

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 21 Jul 2020, 3:23 a.m.
Last Modified: 21 Jul 2020, 3:23 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cone-rod dystrophy 12, MIM# 612657
Macular dystrophy, retinal, 2, MIM# 608051
Retinitis pigmentosa 41, MIM# 612095
Stargardt disease 4, MIM# 603786

OMIM

604365

Clinvar variants

Variants in PROM1

Penetrance

None

Panels with this gene