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Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh Tag for-review was removed from gene: ADAM22.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: NHSGenomic Medicine Service consideration - the amber rating is appropriate for this gene.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Early onset or syndromic epilepsy v2.295 ADAM22 Sarah Leigh changed review comment from: 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.; to: 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 borderline case.
Early onset or syndromic epilepsy v2.295 ADAM22 Sarah Leigh Classified gene: ADAM22 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.295 ADAM22 Sarah Leigh Added comment: 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.
Early onset or syndromic epilepsy v2.295 ADAM22 Sarah Leigh Gene: adam22 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.288 ADAM22 Sarah Leigh Tag for-review tag was added to gene: ADAM22.
Early onset or syndromic epilepsy v2.288 ADAM22 Sarah Leigh reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v2.288 ADAM22 Sarah Leigh Phenotypes for gene: ADAM22 were changed from ?Epileptic encephalopathy, early infantile, 61 OMIM:617933 to ?Epileptic encephalopathy, early infantile, 61 OMIM:617933; developmental and epileptic encephalopathy, 61 MONDO:0033370
Early onset or syndromic epilepsy v2.287 ADAM22 Sarah Leigh Tag watchlist tag was added to gene: ADAM22.
Early onset or syndromic epilepsy v2.280 ADAM22 Sarah Leigh Phenotypes for gene: ADAM22 were changed from ?Epileptic encephalopathy, early infantile, 61, 617933 to ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
Early onset or syndromic epilepsy v2.277 ADAM22 Sarah Leigh Publications for gene: ADAM22 were set to 27066583; 30237576; 15876356
Early onset or syndromic epilepsy v2.274 ADAM22 Helen Lord reviewed gene: ADAM22: Rating: AMBER; Mode of pathogenicity: None; Publications: 31432233, 33397806; Phenotypes: Developmental and epileptic encephalopathy 61; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.47 ADAM22 Rebecca Foulger changed review comment from: Comment on list classification: 2 Families with prominent seizure phenotype and biallelic ADAM22 variants reported (PMIDs:30237576, 27066583). Plus mouse model of seizures. Not yet associated with a disorder in Gene2Phenotype. Amber is appropriate rating awaiting further cases.; to: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. 2 families with prominent seizure phenotype and biallelic ADAM22 variants reported (PMIDs:30237576, 27066583). Plus mouse model of seizures. Not yet associated with a disorder in Gene2Phenotype. Amber is appropriate rating awaiting further cases.
Early onset or syndromic epilepsy v2.47 ADAM22 Rebecca Foulger Classified gene: ADAM22 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.47 ADAM22 Rebecca Foulger Added comment: Comment on list classification: 2 Families with prominent seizure phenotype and biallelic ADAM22 variants reported (PMIDs:30237576, 27066583). Plus mouse model of seizures. Not yet associated with a disorder in Gene2Phenotype. Amber is appropriate rating awaiting further cases.
Early onset or syndromic epilepsy v2.47 ADAM22 Rebecca Foulger Gene: adam22 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.46 ADAM22 Rebecca Foulger Publications for gene: ADAM22 were set to 27066583; 30237576
Early onset or syndromic epilepsy v2.45 ADAM22 Rebecca Foulger commented on gene: ADAM22: Mouse model: Adam22-/- mice develop lethal seizures during the first postnatal weeks (e.g. PMID:15876356).
Early onset or syndromic epilepsy v2.45 ADAM22 Rebecca Foulger Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, 617933 to ?Epileptic encephalopathy, early infantile, 61, 617933
Early onset or syndromic epilepsy v2.44 ADAM22 Rebecca Foulger commented on gene: ADAM22: PMID:30237576 (Maddirevula et al., 2019) searched their database of clinical exomes for homozygous variants and report an 18 year old male with an Arg860* variant in ADAM22. Seizures started age 5 months with a focal seizure, and continued with generalized tonic clonic seizures and status epilepticus (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.
Early onset or syndromic epilepsy v2.44 ADAM22 Rebecca Foulger commented on gene: ADAM22
Early onset or syndromic epilepsy v2.44 ADAM22 Rebecca Foulger Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Epileptic encephalopathy, early infantile, 61, 617933
Early onset or syndromic epilepsy v2.0 ADAM22 Zornitza Stark 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
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list