Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: OFD1
OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 27 panels
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 27 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 23, 300424
- Joubert syndrome 10, 300804
- Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Overgrowth
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Skeletal Dysplasia_Fetal
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Congenital diaphragmatic hernia
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OFD1 was added gene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OFD1 were set to 28191358; 22619378; 29843741 Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209