Familial hypoparathyroidism
Gene: PTHAs discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 2:41 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 3/4 sources. One reviewer recommends Green. Current diagnosticCreated: 3 Jun 2016, 2:17 p.m.
autosomal dominant and autosomal recessive inheritance is reported. Rare cause.Created: 13 Oct 2015, 11:12 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hypoparathyroidism
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Phenotypes for PTH were set to Hypoparathyroidism, autosomal dominant, 146200; Hypoparathyroidism, autosomal recessive, 146200
Mode of inheritance for PTH was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN
Model of inheritance for gene PTH was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen