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Intellectual disability syndromic and non-syndromic

Gene: OFD1

Green List (high evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 27 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 27/04/2018 - https://search.clinicalgenome.org/CCID:005701

ID is a feature of the condition. The associated was first described in PMID: 24884629.
Created: 17 May 2024, 6:06 a.m. | Last Modified: 17 May 2024, 6:06 a.m.
Panel Version: 0.5821

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

Phenotypes
ciliopathy MONDO:0005308

Publications

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ofd1 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: OFD1 were changed from to ciliopathy MONDO:0005308

20 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OFD1 were set to

20 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OFD1 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: OFD1 was added gene: OFD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OFD1 was set to Unknown