Rare multisystem ciliopathy disorders
Gene: C2CD3Comment on PMID:27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cellsCreated: 1 Nov 2018, 6 p.m.
PMID: 27094867 - an additional paper reports compound heterozygous variants in two foetuses from the same family, with a different clinical presentation from the cases in PMID: 24997988: "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." In vitro work on fibroblasts from one of the foetuses, reporting reduced cilia formation.
Created: 25 Jan 2017, 4:19 p.m.
Comment on list classification: Sufficient evidenceCreated: 26 Jan 2017, 9:07 a.m.
Comment on list classification: Only two reported patients but supported by mouse model dataCreated: 23 Jan 2017, 4:14 p.m.
On current diagnostic panel; no positive families to date. Some evidence for literature, reported in OFD.Created: 15 Mar 2016, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: C2CD3 were set to 24997988; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Phenotypes for C2CD3 were set to ?Orofaciodigital syndrome XIV, 615948; short-rib polydactyly syndromes (SRPS; MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; MIM208500); Orofaciodigital syndromes (OFDS, MIM 311200)
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for C2CD3 were set to 24997988; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Publications for C2CD3 were set to 24997988 -; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Phenotypes for C2CD3 were set to ?Orofaciodigital syndrome XIV, 615948;short-rib polydactyly syndromes (SRPS; MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; MIM208500);Orofaciodigital syndromes (OFDS, MIM 311200)
Publications for C2CD3 were set to 24997988 - ;27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells.
Publications for C2CD3 were set to 24997988
This gene has been classified as Amber List (Moderate Evidence).
C2CD3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene C2CD3 were set to ?Orofaciodigital syndrome XIV, 615948
C2CD3 was created by ellenmcdonagh
C2CD3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list