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Ciliopathies

Gene: TAPT1

Amber List (moderate evidence)
TAPT1 (transmembrane anterior posterior transformation 1)
EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 6 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

2 families reported with function studies showing absent or abnormal primary cillia formation. Amber/Green pending additional reports

PMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length
Created: 4 May 2020, 5:38 a.m. | Last Modified: 4 May 2020, 5:44 a.m.
Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)

Publications

Created: 4 May 2020, 5:38 a.m.
Last Modified: 4 May 2020, 5:44 a.m.
Panel version: 0.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
OMIM
612758
Clinvar variants
Variants in TAPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAPT1 were changed from Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tapt1 has been classified as Amber List (Moderate Evidence).

4 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)

4 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAPT1 were set to

4 May 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tapt1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAPT1 was added gene: TAPT1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TAPT1 was set to Unknown