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Ciliopathies

Gene: TBC1D32

Green List (high evidence)
TBC1D32 (TBC1 domain family member 32)
EnsemblGeneIds (GRCh38): ENSG00000146350
EnsemblGeneIds (GRCh37): ENSG00000146350
OMIM: 615867, Gene2Phenotype
TBC1D32 is in 5 panels

2 reviews

Russell Gear (Victorian Clinical Genetics Services)

I don't know

?enough for green - broad phenotype, described in three non-related families in the two papers described here, along with previous review's citation
Created: 19 Jul 2020, 10:51 p.m. | Last Modified: 19 Jul 2020, 10:51 p.m.
Panel Version: 0.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofacial digital syndrome type IX; syndromic hypopituitarism

Publications

Created: 19 Jul 2020, 10:51 p.m.
Last Modified: 19 Jul 2020, 10:51 p.m.
Panel version: 0.193

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three reported families with ciliopathy phenotype.
Created: 4 Dec 2021, 12:35 a.m. | Last Modified: 4 Dec 2021, 12:35 a.m.
Panel Version: 1.13
Single reported individual
Created: 22 Dec 2019, 7:09 a.m. | Last Modified: 22 Dec 2019, 7:09 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome type IX

Publications

Created: 22 Dec 2019, 7:09 a.m.
Last Modified: 22 Dec 2019, 7:09 a.m.
Panel version: 1.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome type IX
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556

4 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d32 has been classified as Green List (High Evidence).

20 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D32 were set to 24285566

20 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).

22 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d32 has been classified as Red List (Low Evidence).

22 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX

22 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D32 were set to

22 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d32 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D32 was added gene: TBC1D32 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D32 was set to Unknown