Intellectual disability syndromic and non-syndromic
Gene: ADGRL1

ADGRL1 (adhesion G protein-coupled receptor L1)
EnsemblGeneIds (GRCh38): ENSG00000072071
EnsemblGeneIds (GRCh37): ENSG00000072071
OMIM: 616416, Gene2Phenotype
ADGRL1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065

Created: 9 Oct 2022, 3:45 a.m.
Last Modified: 9 Oct 2022, 3:45 a.m.
Panel version: 0.4983

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35907405 - 9 patients w/ ADHD (3/9), autism (4/9), mild-moderate ID (5/9) and epilepsy (2/9) and facial dysmorphism (7/9). Variants include missense (4) and PTCs (5), and were either de novo (7/9) or inherited from parents with learning difficulties/ID (2/9).

Functional studies on both PTCs and missense variants show significant reductions in calcium signalling and surface protein.

Het null mouse model shows neurological and developmental abnormalities, with hom null mice non-viable.
Sources: Literature
Created: 4 Aug 2022, 6:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092)

Publications

PMID: 35907405

Created: 4 Aug 2022, 6:23 a.m.

Panel version: 0.4865

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065

OMIM

616416

Clinvar variants

Variants in ADGRL1

Penetrance

None

Publications

PMID: 35907405

Panels with this gene

History Filter Activity

9 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065

9 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADGRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Aug 2022, Gel status: 3