Nephrocalcinosis or nephrolithiasis

Gene: CYP24A1

Green List (high evidence)

CYP24A1 (cytochrome P450 family 24 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000019186
EnsemblGeneIds (GRCh37): ENSG00000019186
OMIM: 126065, Gene2Phenotype
CYP24A1 is in 5 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile hypercalcaemia

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Originally an amber gene, with an expert green review and evidence of multiple cases on OMIM.
Created: 9 May 2016, 10:58 a.m.
Comment on mode of inheritance: Source: Reviewer and OMIM.
Created: 9 May 2016, 10:57 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Infantile Hypercalcemia
  • Hypercalcemia, infantile, 143880
  • Infantile hypercalcaemia
OMIM
126065
Clinvar variants
Variants in CYP24A1
Penetrance
Complete
Panels with this gene

History Filter Activity

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CYP24A1 were set to Infantile Hypercalcemia; Hypercalcemia, infantile, 143880; Infantile hypercalcaemia

9 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CYP24A1 was changed to BIALLELIC, autosomal or pseudoautosomal

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CYP24A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CYP24A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CYP24A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services