1. Panels
  2. Familial hypoparathyroidism
  3. PTH
STRs in panel
Prev Next
Regions in panel
Prev Next

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.
Created: 5 Feb 2019, 2:41 p.m.

Panel version: 1.10

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.
Created: 3 Jun 2016, 2:17 p.m.

Panel version: 0.8

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

Created: 13 Oct 2015, 11:12 a.m.

Panel version: 0

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