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Intellectual disability syndromic and non-syndromic

Gene: OCRL

Green List (high evidence)

OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 18 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as DEFINITIVE by ClinGen ID and Autism Panel on 10/07/2020 - https://search.clinicalgenome.org/CCID:005696
Created: 17 May 2024, 5:55 a.m. | Last Modified: 17 May 2024, 5:55 a.m.
Panel Version: 0.5821

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
oculocerebrorenal syndrome MONDO:0010645

Publications

  • https://search.clinicalgenome.org/CCID:005696

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ocrl has been classified as Green List (High Evidence).

20 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OCRL were changed from to oculocerebrorenal syndrome MONDO:0010645

20 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OCRL was added gene: OCRL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCRL was set to Unknown