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  3. CYP24A1
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Hypercalcaemia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Infantile hypercalcaemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Well established gene-disease association, more than 10 unrelated families reported.
Created: 5 Apr 2021, 11:18 a.m. | Last Modified: 5 Apr 2021, 11:18 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739

Publications

Created: 5 Apr 2021, 11:18 a.m.
Last Modified: 5 Apr 2021, 11:18 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 1, MIM# 143880
  • MONDO:0020739
OMIM
126065
Clinvar variants
Variants in CYP24A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP24A1 were changed from Hypercalcaemia, infantile, 1, MIM# 143880 to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739

5 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp24a1 has been classified as Green List (High Evidence).

5 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880

5 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP24A1 were set to

5 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP24A1 was added gene: CYP24A1 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP24A1 was set to Unknown