Intellectual disability
Gene: ADGRL1

ADGRL1 (adhesion G protein-coupled receptor L1)
EnsemblGeneIds (GRCh38): ENSG00000072071
EnsemblGeneIds (GRCh37): ENSG00000072071
OMIM: 616416, Gene2Phenotype
ADGRL1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: There is sufficient evidence available (five unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 26 Jun 2024, 5:30 p.m. | Last Modified: 26 Jun 2024, 5:30 p.m.

Panel Version: 6.46

PMID:35907405 reported the identification of monoallelic ADGRL1 variants in ten individuals with a neurodevelopmental disorder comprising developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy. This includes a case that was previously reported in PMID:30504930. Mild/ moderate intellectual disability was reported in five of these ten cases.

This gene has been associated with relevant phenotype in OMIM (MIM #620065), but not yet in Gene2Phenotype.
Created: 26 Jun 2024, 5:28 p.m. | Last Modified: 26 Jun 2024, 5:28 p.m.

Panel Version: 6.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065

Publications

Created: 26 Jun 2024, 5:15 p.m.
Last Modified: 26 Jun 2024, 5:15 p.m.
Panel version: 7.41

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

More than 10 cases described in PubMed: 35907405
Sources: Literature
Created: 1 May 2024, 9:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders

Publications

PubMed: 35907405

Created: 1 May 2024, 9:01 a.m.

Panel version: 5.557

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065

OMIM

616416

Clinvar variants

Variants in ADGRL1

Penetrance

None

Publications

Panels with this gene