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  2. Hydrops fetalis
  3. CALCRL
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Hydrops fetalis

Gene: CALCRL

Red List (low evidence)
CALCRL (calcitonin receptor like receptor)
EnsemblGeneIds (GRCh38): ENSG00000064989
EnsemblGeneIds (GRCh37): ENSG00000064989
OMIM: 114190, Gene2Phenotype
CALCRL is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with several affected pregnancies.
Sources: Literature
Created: 3 Aug 2020, 7:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphatic malformation 8 (MIM# 618773); hydrops fetalis

Publications

Created: 3 Aug 2020, 7:22 a.m.

Panel version: 0.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic malformation 8 (MIM# 618773)
  • hydrops fetalis
OMIM
114190
Clinvar variants
Variants in CALCRL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: calcrl has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CALCRL was added gene: CALCRL was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CALCRL were set to 30115739 Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis Review for gene: CALCRL was set to RED