Rare multisystem ciliopathy disorders
Gene: TAPT1EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 10 panels
1 review
Alice Gardham (Genomics England)
Mutations only identified in two families. Patients unlikely to fulfil entry criteria to this panelCreated: 25 Jan 2017, 9:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
- OMIM
- 612758
- Clinvar variants
- Variants in TAPT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Set publications
Alice Gardham (Genomics England)Publications for TAPT1 were set to 26365339
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for TAPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)TAPT1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TAPT1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list