Pituitary hormone deficiency
Gene: TBC1D32The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 3:01 p.m.
Panel Version: 2.106
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 22 Sep 2022, 4 p.m. | Last Modified: 22 Sep 2022, 4 p.m.
Panel Version: 2.102
Not associated with a phenotype in OMIM, and limited association to Ciliopathy syndrome in Gen2Phen. At least four variants have been reported in three unrelated cases in PMIDs: 24285566;32060556;35875813.Created: 22 Sep 2022, 3:56 p.m. | Last Modified: 22 Sep 2022, 3:56 p.m.
Panel Version: 2.101
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Hietamki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Knskoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T.J Clin Endocrinol MetabCreated: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOPITUITARISM, OROFACIODIGITAL SYNDROME FEATURES, POLYDACTYLY
Tag gene-checked tag was added to gene: TBC1D32.
Tag Q3_22_NHS_review was removed from gene: TBC1D32.
Tag Q3_22_rating was removed from gene: TBC1D32.
Source Expert Review Green was added to TBC1D32. Source NHS GMS was added to TBC1D32. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_22_rating tag was added to gene: TBC1D32. Tag Q3_22_NHS_review tag was added to gene: TBC1D32.
Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TBC1D32 were changed from to Syndromic Hypopituitarism; orofaciodigital syndrome
Publications for gene: TBC1D32 were set to 32060556; 35875813
Mode of inheritance for gene: TBC1D32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to
gene: TBC1D32 was added gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: TBC1D32 was set to