Renal Ciliopathies and Nephronophthisis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene is associated with multiple ciliopathy phenotypes but renal involvement reported with JBTS/OFD.
Created: 24 May 2020, 11:21 a.m. | Last Modified: 17 Jul 2021, 8:02 a.m.
Panel Version: 0.271

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

Phenotypes
Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804

Publications

History Filter Activity

17 Jul 2021, 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).

17 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804

17 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OFD1 were set to

17 Jul 2021, 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

17 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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: OFD1 was set to Unknown