1. Panels
  2. Fetal anomalies
  3. CRELD1
Genes in panel
Prev Next

Fetal anomalies

Gene: CRELD1

Amber List (moderate evidence)
CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

PMID 37947183: 18 patients from 14 families with biallelic variants. This syndrome almost universally presented as a congenital developmental disorder with early-onset epileptic encephalopathy. Prenatal phenotypes reported were Oligohydramnios in 2 patients, Decreased fetal movement in one patient, Polyhydramnios in one patient.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jeffries-Lakhani neurodevelopmental syndrome MIM#620771

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HETEROTAXY SYNDROME
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
OMIM
607170
Clinvar variants
Variants in CRELD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; HETEROTAXY SYNDROME to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CRELD1. Mode of inheritance for gene CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1 Publications for gene: CRELD1 were updated from to 37947183

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CRELD1 was added gene: CRELD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME