Familial hypoparathyroidism

Gene: PTH

Green List (high evidence)

PTH (parathyroid hormone)
EnsemblGeneIds (GRCh38): ENSG00000152266
EnsemblGeneIds (GRCh37): ENSG00000152266
OMIM: 168450, Gene2Phenotype
PTH is in 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

As 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.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 3/4 sources. One reviewer recommends Green. Current diagnostic
Created: 3 Jun 2016, 2:17 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, autosomal dominant, 146200
  • Hypoparathyroidism, autosomal recessive, 146200
OMIM
168450
Clinvar variants
Variants in PTH
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PTH were set to Hypoparathyroidism, autosomal dominant, 146200; Hypoparathyroidism, autosomal recessive, 146200

3 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PTH was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PTH was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PTH was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen