Skeletal dysplasia
Gene: OFD1EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 27 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
OFD - missense, PTCs. OFD1-causing mutations in males are lethal (affecting N-terminal region before aa631).
JS - C-terminal PTCs, inframe deletion. Only males affected, female carriers are normal
SGBS - C-terminal PTCs, carrier females are normal
RP - single report, deep intronic variant causing cryptic exon inclusion
PCD - C-terminal PTCs, 3 hemi patients
No pattern of X-inactivation
Correlation of protein length reduction and severity
Variable expressivity - patients with the same variants presenting with features of multiple OFD1-related conditions and intra- and inter-familial variability (PMID: 31373179; PMID: 23033313).
CNVs are commonly reported for this gene (PMID: 23033313)Created: 20 Nov 2020, 1:23 a.m. | Last Modified: 20 Nov 2020, 1:23 a.m.
Panel Version: 0.5393
Mode of inheritance
Other
Phenotypes
?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established ciliopathy gene. The severity of the phenotype appears to correlate with a reduction in protein length. Can be XLR and XLD.Created: 11 May 2020, 2:30 a.m. | Last Modified: 11 May 2020, 2:30 a.m.
Panel Version: 0.133
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert Review Green
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Orofaciodigital syndrome I 311200 XLD
- Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
- Joubert syndrome 10 300804
- OMIM
- 300170
- Clinvar variants
- Variants in OFD1
- Penetrance
- None
- 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
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Arthrogryposis
- Mendeliome
- Congenital diaphragmatic hernia
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OFD1 was added gene: OFD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Joubert syndrome 10 300804