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Prepair 1000+

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Orofaciodigital syndrome I (MIM#311200) is X-linked dominant and is associated with severe disease in heterozygous females and is lethal in hemizygous males, this condition is not of interest in a carrier screening context as heterozygous females are expected to be affected.

However Joubert syndrome and Simpson-Golabi-Behmel syndrome are x-linked recessive where heterozygous females are generally not affected/only mildly affected. Therefore these conditions are of interest in carrier screening.

There is also a retinitis pigmentosa phenotype in OMIM but it seems to have limited evidence currently and appears to be associated with a deep intronic variant causing cryptic exon inclusion (PMID: 22619378). This variant at chrX:13768358 is well covered in lumi sequencing but does not have great coverage in twist v2. This gene is green on the RP panel therefore this is likely of interest in a carrier screening context.

there is a genotype phenotype correlation with protein length reduction and severity. missense of N-terminal PTCs are associated with OFD1, while C-terminal PTCs are associated with SGBS and Joubert syndrome (PMID: 31373179, PMID: 23033313, PMID: 16783569, OMIM).
Created: 31 Oct 2024, 1:49 a.m. | Last Modified: 31 Oct 2024, 1:49 a.m.
Panel Version: 1.545

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

Phenotypes
Joubert syndrome 10 MIM#300804; Simpson-Golabi-Behmel syndrome, type 2 MIM#300209; Retinitis pigmentosa 23 MIM#300424

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 10, 300804 (3) for gene: OFD1

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)