Intellectual disability
Gene: CRELD1

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.

Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (>10 unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 20 Sep 2024, 10:40 a.m. | Last Modified: 20 Sep 2024, 10:40 a.m.

Panel Version: 7.39

PMID:37947183 reported the identification of biallelic variants in 18 patients from 14 families. Most harbored a frameshift in trans with a missense allele, with one recurrent variant, p.(Cys192Tyr), identified in 10 families.

They displayed an array phenotypes involving global developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal.

Xenopus tropicalis tadpoles with creld1 knockdown displayed developmental defects along with increased susceptibility to induced seizures compared with controls. Additionally, human CRELD1 harbouring missense variants from affected individuals had reduced protein function, indicated by a diminished ability to induce craniofacial defects when overexpressed in X tropicalis.

CRELD1 gene with biallelic MOI has been associated with relevant phenotypes in both OMIM (MIM #620771) and Gene2Phenotype ('moderate' rating on the DD panel).
Created: 20 Sep 2024, 10:37 a.m. | Last Modified: 20 Sep 2024, 10:37 a.m.

Panel Version: 7.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771

Publications

37947183

Created: 20 Sep 2024, 10:37 a.m.
Last Modified: 20 Sep 2024, 10:37 a.m.
Panel version: 7.36

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

The papers reports:
Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections.
Sources: Literature
Created: 24 Aug 2024, 1:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

PMID: 37947183

Created: 24 Aug 2024, 1:30 p.m.

Panel version: 7.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771

OMIM

607170

Clinvar variants

Variants in CRELD1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CRELD1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CRELD1. Source Expert Review Green was added to CRELD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Nov 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CRELD1 were set to 37947183

20 Sep 2024, Gel status: 2