PanelApp
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  2. Familial hypoparathyroidism
Description
This panel contains genes associated with familial hypoparathyroidism. 

It has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).
Panel Activity

5 reviewers

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

8 Entities

8 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
AIRE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoimmune polyendocrine syndrome type 1 MONDO:0009411
Tags
Green Green List (high evidence)
CASR
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal dominant hypocalcemia 1 MONDO:0011013
Tags
Green Green List (high evidence)
GATA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797
Tags
Green Green List (high evidence)
GCM2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, familial isolated 2, OMIM #618883
Tags
Green Green List (high evidence)
GNA11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal dominant hypocalcemia MONDO:0018543
Tags
Green Green List (high evidence)
PTH
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000
Tags
Green Green List (high evidence)
TBCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426
Tags
Green Green List (high evidence)
TBX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • DiGeorge syndrome MIM# 188400
  • Velocardiofacial syndrome MIM# 192430
  • Decreased T cells
  • Hypoparathyroidism
  • Conotruncal cardiac malformation
  • velopalatal insufficiency
  • abnormal facies (cleft palate, prominent tubular nose etc)
  • intellectual disability
  • Immunodeficiency
  • thymic hypoplasia or aplasia with resultant T‐cell dysfunction
  • renal anomalies
  • autoimmunity
Tags

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