1. Panels
  2. Familial hypoparathyroidism
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Familial hypoparathyroidism (Version 3.5)

Level 2: Endocrinology

Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Apr 2025)
Previously signed off versions: v2.14, v2.2
Previous code: 55bf826222c1fc0fe45530c1
Description
This panel is used for clinical indication 'R153 Familial hypoparathyroidism', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/)  under 'R153 Familial hypoparathyroidism'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

7 reviewers

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

10 Entities

10 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green List (high evidence)
AIRE
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
  • autoimmune polyendocrine syndrome type 1, MONDO:0009411
Tags
  • Q4_25_MOI
Green List (high evidence)
CASR
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
Tags
Green List (high evidence)
GATA3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green List (high evidence)
GCM2
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated, 146200
Tags
Green List (high evidence)
GNA11
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypocalcemia, autosomal dominant 2, 615361
  • hypercalcemia, type II, 145981
Tags
Green List (high evidence)
PTH
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, autosomal dominant, 146200
  • Hypoparathyroidism, autosomal recessive, 146200
Tags
Green List (high evidence)
TBCE
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
  • Caffey syndrome, type 1, 244460
Tags
Green List (high evidence)
TBX1
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • DiGeorge syndrome, OMIM:188400
  • Conotruncal anomaly face syndrome, OMIM:217095
  • Velocardiofacial syndrome, OMIM:192430
Tags
Amber List (moderate evidence)
STX16
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Pseudohypoparathyroidism, type IB OMIM:603233
  • pseudohypoparathyroidism type 1B:MONDO:0011301
Tags
  • cnv
  • non-coding-known-pathogenic
Red List (low evidence)
SOX3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
  • Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
  • Panhypopituitarism, X-linked, OMIM:312000
  • Panhypopituitarism, X-linked, MONDO:0010712
Tags

Major version comments

  • 2025-04-30 16:24 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2019-09-23 12:02 Ivone Leong (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.12) was signed off under NHS Genomic Medicine Service governance on (23/09/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    Promoted to level 1 6th June 2016

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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