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Genetic Epilepsy

Gene: ADAM22

Green List (high evidence)
ADAM22 (ADAM metallopeptidase domain 22)
EnsemblGeneIds (GRCh38): ENSG00000008277
EnsemblGeneIds (GRCh37): ENSG00000008277
OMIM: 603709, Gene2Phenotype
ADAM22 is in 4 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

19 additional patients (some related) all with compound het or homozygous ADAM22 variants. Including the previously described cases there are now 16 families with biallelic ADAM22 variants causing developmental epileptic encephalopathy. All had infantile onset epilepsy and moderate to profound global dev delay and ID. Cerebellar atrophy on MRI and hypotonia were seen in over half of the individuals.

Functional studies suggest LOF- reduced protein expression/protein retained in ER and reduced cell surface expression. Variants described are a mix of missense and PTC.
Created: 7 Apr 2022, 1:35 a.m. | Last Modified: 7 Apr 2022, 1:35 a.m.
Panel Version: 0.1535

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 61 (MIM#617933)

Publications

Created: 7 Apr 2022, 1:35 a.m.
Last Modified: 7 Apr 2022, 1:35 a.m.
Panel version: 0.1535

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Created: 3 Jan 2020, 1:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 61, MIM# 617933

Publications

Created: 3 Jan 2020, 1:34 a.m.

Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 61 (MIM#617933)
OMIM
603709
Clinvar variants
Variants in ADAM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)

7 Apr 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)

7 Apr 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: ADAM22 were set to 27066583; 30237576

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: adam22 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAM22 was added gene: ADAM22 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 27066583; 30237576 Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933 Review for gene: ADAM22 was set to AMBER