OFD1OFD1, centriole and centriolar satellite protein
Autism Reports / Total Reports
5 / 6Rare Variants / Common Variants
7 / 0Aliases
OFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2Associated Syndromes
Orofaciodigital syndrome I, ASD, DDChromosome Band
Xp22.2Associated Disorders
-Genetic Category
Rare Single Gene Mutation, SyndromicRelevance to Autism
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
Molecular Function
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. 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. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which i
External Links
SFARI Genomic Platforms
Reports related to OFD1 (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
2 | Recent Recommendation | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders | Li J , et al. (2017) | Yes | - |
3 | Support | Genetic landscape of autism spectrum disorder in Vietnamese children | Tran KT et al. (2020) | Yes | - |
4 | Support | - | Zhou X et al. (2022) | Yes | - |
5 | Support | - | Papuc SM et al. (2023) | Yes | - |
6 | Support | - | Kirsten Furley et al. () | No | ID |
Rare Variants (7)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.935+1G>C | - | splice_site_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2819T>G | p.Leu940Ter | stop_gained | Unknown | - | - | 38536866 | Kirsten Furley et al. () | |
c.1066G>C | p.Glu356Gln | missense_variant | Familial | - | - | 28831199 | Li J , et al. (2017) | |
c.260A>G | p.Tyr87Cys | missense_variant | De novo | - | - | 36833254 | Papuc SM et al. (2023) | |
c.1506C>T | p.Ser502%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1102-1G>T | - | splice_site_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.2209A>G | p.Thr737Ala | missense_variant | Familial | Maternal | Simplex | 32193494 | Tran KT et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
4/1/2020
Decreased from 3 to 3
Description
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
Reports Added
[New Scoring Scheme]7/1/2017
Increased from to 4
Description
A de novo splice-site variant in the OFD1 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in OFD1 in a Chinese ASD proband; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified OFD1 as an ASD candidate gene with a PTADA of 0.001754.
Krishnan Probability Score
Score 0.28929768828192
Ranking 25496/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.98288766184925
Ranking 2047/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94361098103173
Ranking 15754/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.14960130349178
Ranking 5185/20870 scored genes
[Show Scoring Methodology]