Retinitis pigmentosa_Autosomal Dominant
Gene: PITPNM3

PITPNM3 (PITPNM family member 3)
EnsemblGeneIds (GRCh38): ENSG00000091622
EnsemblGeneIds (GRCh37): ENSG00000091622
OMIM: 608921, Gene2Phenotype
PITPNM3 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Only a single missense (p.Gln626His) identified in 2 Swedish families with cone-rod dystrophy. 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. The rod system also seems to be unaffected.
Created: 7 Feb 2020, 10:05 a.m. | Last Modified: 7 Feb 2020, 10:05 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 5 MIM#600977

Publications

Created: 7 Feb 2020, 10:05 a.m.
Last Modified: 7 Feb 2020, 10:05 a.m.
Panel version: 0.1

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

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pitpnm3 has been classified as Red List (Low Evidence).

23 Dec 2019, Gel status: 2

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 Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,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 22405330; 17377520 Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977

Retinitis pigmentosa_Autosomal Dominant Gene: PITPNM3