Macular Dystrophy/Stargardt Disease
Gene: PITPNM3EnsemblGeneIds (GRCh38): ENSG00000091622
EnsemblGeneIds (GRCh37): ENSG00000091622
OMIM: 608921, Gene2Phenotype
PITPNM3 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Only a single missense (p.Gln626His) identified in 2 Swedish families. Macular atrophy is feature of the cone-rod dystrophy in these families. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. No functional assays have been conducted.Created: 5 Feb 2020, 4:52 a.m. | Last Modified: 5 Feb 2020, 4:52 a.m.
Panel Version: 0.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cone-rod dystrophy 5 MIM#600977
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Cone-rod dystrophy 5, 600977
- OMIM
- 608921
- Clinvar variants
- Variants in PITPNM3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pitpnm3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pitpnm3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PITPNM3 was added gene: PITPNM3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITPNM3 were set to 17377520; 22405330 Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977