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  2. Neurological ciliopathies
  3. TAPT1
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Neurological ciliopathies

Gene: TAPT1

Red List (low evidence)
TAPT1 (transmembrane anterior posterior transformation 1)
EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 10 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only identified in two families. Patients unlikely to fulfil entry criteria to this panel
Created: 25 Jan 2017, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897

Publications

Created: 25 Jan 2017, 9:40 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.433

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
OMIM
612758
Clinvar variants
Variants in TAPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TAPT1 was added gene: TAPT1 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 26365339 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897