Heterotaxy

Gene: RPGR

Red List (low evidence)

RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

No indication of situs invertus/heterotaxy in OMIM for the conditions associated with this gene.

PMID: 26093275: Review article. No indication of heterotaxy features.
PMID: 31775781: No indication of heterotaxy in 2 families reported.
Created: 27 May 2020, 12:56 a.m. | Last Modified: 27 May 2020, 12:56 a.m.
Panel Version: 0.51

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Retinitis pigmentosa 3 (MIM#300029)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 3 (MIM#300029)
OMIM
312610
Clinvar variants
Variants in RPGR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)

27 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPGR were set to

27 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPGR was added gene: RPGR was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPGR was set to Unknown