Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PROM1

Green List (high evidence)

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

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
OMIM
604365
Clinvar variants
Variants in PROM1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PROM1 was added gene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657