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Intellectual disability

Gene: ADAM22

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Comment on list classification: There is just enough evidence for this gene to be rated GREEN at the next major review, which may make it a boarderline case.
Created: 11 Feb 2021, 10:19 a.m. | Last Modified: 11 Feb 2021, 10:19 a.m.
Panel Version: 3.778
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least two variants reported, in two unrelated cases with biallelic variants together with a knock-in mouse model (Adam22 ΔC5/ΔC5), which has lethal epilepsy, together with other supportive functional studies.
Created: 2 Feb 2021, 12:46 p.m. | Last Modified: 2 Feb 2021, 12:46 p.m.
Panel Version: 3.751

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
  • Expert Review Green
  • Literature
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
  • developmental and epileptic encephalopathy, 61 MONDO:0033370
OMIM
603709
Clinvar variants
Variants in ADAM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ADAM22.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ADAM22. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

2 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADAM22 were changed from to ?Epileptic encephalopathy, early infantile, 61 OMIM:617933; developmental and epileptic encephalopathy, 61 MONDO:0033370

2 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: ADAM22.

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