Description
Familial or syndromic hypoparathyroidism inclusion criteria (29412)
- Hypocalcaemia, congenital or acquired
- High normal or raised serum phosphate
- Low or low-normal plasma parathyroid hormone in the presence of hypocalcaemia
- Normal serum 25-OH vitamin D
- Low serum magnesium may be present, but is not required for diagnosis
AND
- At least one first degree relative with hypoparathyroidism, OR
- At least one additional congenital anomaly or unexplained medical disorder likely to be causally related to the hypoparathyroidism

Familial or syndromic hypoparathyroidism exclusion criteria (29412)
- Significant renal failure (estimated creatinine clearance < 30 mls/min), renal dysplasia, sensorineural deafness (HDR syndrome). 
- Skeletal manifestations of pseudohypoparathyroidism.
- Elevated parathyroid hormone.

Prior genetic testing guidance (29412)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Familial or syndromic hypoparathyroidism prior genetic testing genes (29412)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - CASR

Closing statement (29412)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 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

8 Entities

8 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
AIRE
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
Tags
Green Green List (high evidence)
GATA3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GCM2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated, 146200
Tags
Green Green List (high evidence)
GNA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypocalcemia, autosomal dominant 2, 615361
  • hypercalcemia, type II, 145981
Tags
Green Green List (high evidence)
PTH
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, autosomal dominant, 146200
  • Hypoparathyroidism, autosomal recessive, 146200
Tags
Green Green List (high evidence)
TBCE
2 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
Red Red List (low evidence)
SOX3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
  • Panhypopituitarism, X-linked, 312000
Tags

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