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  2. Pituitary hormone deficiency
  3. TBC1D32
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Pituitary hormone deficiency

Gene: TBC1D32

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with syndromic hypopituitarism and bi-allelic variants in this gene.
Sources: Literature
Created: 20 Jul 2020, 8:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic hypopituitarism

Publications

Created: 20 Jul 2020, 8:34 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic hypopituitarism
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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).

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).

20 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D32 was added gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 32573025; 32060556 Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism Review for gene: TBC1D32 was set to AMBER