| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare multisystem ciliopathy disorders v1.139 | ATD | Arina Puzriakova Tag curated_removed tag was added to gene: ATD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.137 | TCTEX1D2 | Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.125 | ATD | Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: ATD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.105 | IFT81 | Rebecca Foulger commented on gene: IFT81: Duran et al. 2016 (PMID:27666822) identify two individuals with skeletal ciliopathies: R98-443 with sphyxiating thoracic dystrophy (ATD), and R13-147A with Short-rib polydactyly syndromes (SRPS). Exome sequencing revealed compound het variants in IFT81 in both cases: p.Leu29Phe and p.Arg512* in R98-443, and p.Leu262* and p.Leu435del in R13-147A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.77 | C2CD3 |
Eleanor Williams 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.63 | TCTEX1D2 | Rebecca Foulger commented on gene: TCTEX1D2: PMID:26044572 (Schmidts et al 2015) performed whole exome sequencing of 69 individuals from 60 families clinically diagnosed with JATD, and identified a homozygous consensus splice variant (c.113+2C>G) in TCTEX1D2 from a consanguineous Turkish family plus a >10-kb homozygous deletion in two affected siblings (UCL4 II.6 and II.8) from a consanguineous Arabic family that removes exon 1–2 of TCTEX1D2. Additional analysis of further JATD/SRPS cases found a compound heterozygous TCTEX1D2 variant in a non-consanguineous French family comprisimng a nonsense (c.262C>T; p.Arg88*) and a deletion-insertion frameshift (c.100delinsCT; p.Val34Leufs*12). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.63 | TCTEX1D2 | Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Jeune ATD to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.55 | C21orf2 | Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome to Jeune asphyxiating thoracic dystrophy (JATD); Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Louise Daugherty classified ATD as grey | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Louise Daugherty commented on ATD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Alice Gardham marked ATD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Ellen McDonagh commented on ATD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Ellen McDonagh added ATD to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | ATD | Ellen McDonagh reviewed ATD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||