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Intellectual disability

Gene: ADAM22

Amber List (moderate evidence)

ADAM22 (ADAM metallopeptidase domain 22)
EnsemblGeneIds (GRCh38): ENSG00000008277
EnsemblGeneIds (GRCh37): ENSG00000008277
OMIM: 603709, Gene2Phenotype
ADAM22 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Set rating as Amber: 2 unrelated families with ID as part of the phenotype (PMID:27066583 and 30237576).
Created: 4 May 2020, 4:28 p.m. | Last Modified: 4 May 2020, 4:28 p.m.
Panel Version: 3.35
PMID:27066583. Muona et al., 2016 report a Finnish proband-parent-trio with intractable seizures and ID. Compound het variants c.1202G>A, p.Cys401Tyr and c.2396delG, p.Ser799IlefsTer96 were found in ADAM22. Functional assays showed that mutant proteins failed to form the LGI1-ADAM22 ligand-receptor complex. The variants are unlikely to be full LOF.
Created: 4 May 2020, 4:27 p.m. | Last Modified: 4 May 2020, 4:27 p.m.
Panel Version: 3.34
PMID:30237576 (Maddirevula et al., 2019) searched their database of clinical exomes for homozygous variants and report an 18 year old male with Arg860* variant and recurrent seizures (Supplementary Table). His development was normal until 5 months when he had a slower gain of milestones. He has ID with severely delayed speech. Family history revealed ID and epilepsy in his old brother and in wider family.
Created: 4 May 2020, 4:27 p.m. | Last Modified: 4 May 2020, 4:27 p.m.
Panel Version: 3.34
Added ADAM22 to ID panel based on literature curation for Epilepsy phenotype. Patients in PMID:27066583 (Finnish trio with compound het ADAM22 variants in the proband) and PMID:30237576 (18 year old male with Arg860* variant) both report ID alongside epilepsy.
Sources: Literature
Created: 4 May 2020, 4:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
603709
Clinvar variants
Variants in ADAM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: adam22 has been classified as Amber List (Moderate Evidence).

4 May 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ADAM22 was added gene: ADAM22 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 27066583; 30237576