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Prepair 1000+

Gene: RPGR

Amber List (moderate 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)

I don't know

Gene is mostly well covered however is missing critical region (ORF15) - ChrX:38286208-38286209
Created: 9 Sep 2022, 1:27 a.m. | Last Modified: 9 Sep 2022, 1:27 a.m.
Panel Version: 0.168
Reported in multiple XLRP families and accounts for up to 20% of RP patients. However, up to 60% of variants are clustered within exon ORF15 in an alternatively spliced transcript. ORF15 is a highly repetitive and difficult region to sequence.
Created: 22 Aug 2022, 10:33 p.m. | Last Modified: 22 Aug 2022, 10:33 p.m.
Panel Version: 0.155

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

History Filter Activity

9 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpgr has been classified as Amber List (Moderate Evidence).

9 Sep 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPGR were changed from Macular degeneration, X-linked atrophic, 300834 (3) to Retinitis pigmentosa 3 (MIM#300029)

9 Sep 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPGR were set to

9 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpgr has been classified as Amber List (Moderate Evidence).

9 Sep 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: RPGR.

24 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: RPGR.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPGR was added gene: RPGR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)