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Genetic epilepsy syndromes

Gene: ADAM22

No list

ADAM22 (ADAM metallopeptidase domain 22)
EnsemblGeneIds (GRCh38): ENSG00000008277
EnsemblGeneIds (GRCh37): ENSG00000008277
OMIM: 603709, Gene2Phenotype
ADAM22 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Created: 7 Jan 2020, 3:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 61, MIM# 617933
OMIM
603709
Clinvar variants
Variants in ADAM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ADAM22 was added gene: ADAM22 was added to Genetic epilepsy syndromes. 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