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OFD1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- OFD1 (HGNC:2567) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- OFD1 centriole and centriolar satellite protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CXorf5, RP23
- Alias symbols
- 71-7A, JBTS10
- %HI
- 70.25(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.96(Read more about gnomAD pLI score)
- LOEUF
- 0.32(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:13752867-13787476 NCBI Ensembl UCSC GRCh38/hg38: chrX:13714505-13773738 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003611.3 ENST00000340096.11 (Read more about MANE Select)
- Function
- Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signa... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- orofaciodigital syndrome I Monarch
-
PUBMED:
11179005
Ferrante et al. (2001) described 3 frameshift, one nonsense and one splice-site variant in females with oral-facial-digital type 1 (OFD1) syndrome. One familial variant, a 19 basepair deletion in exon 3 of the OFD1 gene leading to a frameshift, was shown to segregate with disease. This variant was detected in an affected mother and daughter but absent in an unaffected daughter and son. Variants described were not found in 90 normal X chromosomes.
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PUBMED:
11950863
Rakkolainen et al. (2002) describe two frameshift and one splice variant in OFD1. The splice variant in intron 5 was detected in a family with affected females in three successive generations. A second family carried a 2 basepair insertion in exon 16 that was detected in an affected mother and two affected daughters. The variant were not found in 50 control individuals.
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PUBMED:
18546297
In a cohort of 120 individuals clinically diagnosed with OFD1 syndrome Prattichizzo et al 2008 detected 57 loss of function variants including 36 frameshift, 11 splice-site and 11 nonsense variants. All variants were located in exons 1-16 (out of 23 exons).
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PUBMED:
23033313
Bisschoff et al 2013 detected 27 loss of function variants in female probands from a cohort of 61 families with suspected OFD1 syndrome. The mothers of 18 probands were tested and the variants were found to be inherited from an affected mother in 6/18 cases.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
