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Arthrogryposis v3.150 SCN1A Sarah Leigh Tag for-review was removed from gene: SCN1A.
Arthrogryposis v3.150 SCN1A Sarah Leigh commented on gene: SCN1A
Arthrogryposis v3.149 SCN1A Sarah Leigh Source Expert Review Green was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.18 SCN1A Arina Puzriakova Classified gene: SCN1A as Amber List (moderate evidence)
Arthrogryposis v3.18 SCN1A Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (4) reported in 2 papers (PMIDs: 32928894 and 29543227) with ACM and variants in this gene.

It is anticipated that early-onset seizures likely represent the predominant feature of the disease presentation (already Green on the Genetic epilepsy syndromes panel), however this gene will be flagged for review to assess whether inclusion on this panel is likely to be of clinical benefit.
Arthrogryposis v3.18 SCN1A Arina Puzriakova Gene: scn1a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.17 SCN1A Arina Puzriakova Phenotypes for gene: SCN1A were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita; Dravet syndrome, OMIM:607208
Arthrogryposis v3.16 SCN1A Arina Puzriakova Publications for gene: SCN1A were set to 32928894
Arthrogryposis v3.15 SCN1A Arina Puzriakova Tag for-review tag was added to gene: SCN1A.
Arthrogryposis v3.13 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Arthrogryposis multiplex congenita, Dravet syndrome, MIM# 607208
Arthrogryposis v3.13 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v3.13 SCN1A Arina Puzriakova commented on gene: SCN1A: Note SCN1A is a well-established cause of Dravet syndrome, MIM# 607208
Arthrogryposis v3.13 SCN1A Arina Puzriakova changed review comment from: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease association.; to: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease relationship.
Arthrogryposis v3.13 SCN1A Arina Puzriakova Classified gene: SCN1A as Amber List (moderate evidence)
Arthrogryposis v3.13 SCN1A Arina Puzriakova Added comment: Comment on list classification: Association with this phenotype currently based on a single publication, although reporting 3 unrelated cases.

Rating Amber, awaiting further publications/clinical evidence to validate this gene-disease association.
Arthrogryposis v3.13 SCN1A Arina Puzriakova Gene: scn1a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.12 SCN1A Arina Puzriakova gene: SCN1A was added
gene: SCN1A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN1A were set to 32928894
Phenotypes for gene: SCN1A were set to Arthrogryposis multiplex congenita
Review for gene: SCN1A was set to AMBER
Added comment: PMID: 32928894 (2020) - De novo missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three unrelated patients with AMC which was diagnosed from the second trimester of pregnancy. One patient developed intractable epilepsy from birth and died at 21 days, while the other two pregnancies were terminated. No functional studies of the variants or patient cells were performed.
Sources: Literature