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Cone-rod Dystrophy

Gene: PITPNM3

Red List (low evidence)
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)

Comment on list classification: No convincing evidence and no recent reports
Created: 22 May 2020, 3:27 a.m. | Last Modified: 22 May 2020, 3:27 a.m.
Panel Version: 0.5
Single missense (p.Gln626His) identified in 2 Swedish families and two British macular dystrophy cases. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. Three other variants reported in isolated cases. No functional assays have been conducted.
Created: 5 Feb 2020, 4:52 a.m. | Last Modified: 22 May 2020, 3:27 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cone-rod dystrophy 5 MIM#600977

Publications

Created: 5 Feb 2020, 4:52 a.m.
Last Modified: 22 May 2020, 3:27 a.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • 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

22 May 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).

19 May 2020, Gel status: 3

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 Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITPNM3 were set to 30679166; 17377520; 22405330 Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977