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Fetal anomalies

Gene: CALCRL

Amber List (moderate evidence)
CALCRL (calcitonin receptor like receptor)
EnsemblGeneIds (GRCh38): ENSG00000064989
EnsemblGeneIds (GRCh37): ENSG00000064989
OMIM: 114190, Gene2Phenotype
CALCRL is in 1 panel

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Lymphatic malformation 8 (Autosomal recessive); not in any panels on PanelApp; PMID:33082562 - Systematic Review of Monogenic Etiologies of Nonimmune Hydrops Fetalis. In table 2 - Genes and associated syndromes with emerging evidence for an association with NIHF based on a single reported case in the literature: PMID:30115739 - nonimmune hydrops fetalis (NIHF) associated with a recessive disorder. Homozygosity results in fetal demise from hydrops fetalis, while heterozygosity in females is associated with spontaneous miscarriage and subfertility - large family (2 cases hydrops); PMID:16537897 - Hydrops fetalis, cardiovascular defects, and embryonic lethality in mice lacking the calcitonin receptor-like receptor gene. Amber - more gene / phenotype evidence required.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphatic Malformation 8

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association.
Created: 26 Jan 2021, 12:47 p.m. | Last Modified: 26 Jan 2021, 12:47 p.m.
Panel Version: 1.180
Created: 26 Jan 2021, 12:47 p.m.
Last Modified: 26 Jan 2021, 12:47 p.m.
Panel version: 1.180

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with several affected pregnancies.
Sources: Literature
Created: 3 Aug 2020, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Aug 2020, 11:11 a.m.

Panel version: 1.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Lymphatic malformation 8, OMIM:618773
  • Lymphatic malformation 8, MONDO:0032907
  • Hydrops fetalis
OMIM
114190
Clinvar variants
Variants in CALCRL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Added New Source, Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to CALCRL. Source NHS GMS was added to CALCRL. Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

26 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CALCRL were changed from Lymphatic malformation 8 (MIM# 618773); hydrops fetalis to Lymphatic malformation 8, OMIM:618773; Lymphatic malformation 8, MONDO:0032907; Hydrops fetalis

26 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CALCRL were set to 30115739

26 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

3 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CALCRL was added gene: CALCRL was added to Fetal anomalies. 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