Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Intellectual disability - microarray and sequencing v5.312 SCAF4 Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
Intellectual disability - microarray and sequencing v5.311 SCAF4 Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
Intellectual disability - microarray and sequencing v4.61 SCAF4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAF4.
Intellectual disability - microarray and sequencing v4.53 SCAF4 Arina Puzriakova Tag Q2_22_rating was removed from gene: SCAF4.
Tag Q2_22_NHS_review was removed from gene: SCAF4.
Intellectual disability - microarray and sequencing v4.53 SCAF4 Arina Puzriakova edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.52 SCAF4 Arina Puzriakova Source NHS GMS was added to SCAF4.
Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh edited their review of gene: SCAF4: Added comment: In repsonse to Ian Berry's (Leeds Genetics Laboratory) review, which also reports an additional patient with a de novo truncating variant, there is sufficient evidence for SCAF4 to be green on this panel.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh Tag watchlist was removed from gene: SCAF4.
Tag Q2_22_rating tag was added to gene: SCAF4.
Tag Q2_22_NHS_review tag was added to gene: SCAF4.
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh Classified gene: SCAF4 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh Gene: scaf4 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1580 SCAF4 Ian Berry reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32730804; Phenotypes: Seizures, intellectual disability (mild); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v3.413 SCAF4 Arina Puzriakova Phenotypes for gene: SCAF4 were changed from to SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities
Intellectual disability - microarray and sequencing v3.412 SCAF4 Arina Puzriakova Classified gene: SCAF4 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.412 SCAF4 Arina Puzriakova Added comment: Comment on list classification: At least 8 unrelated individuals reported in PMID:32730804 with a neurodevelopmental disorder characterised by DD/ID, mostly in the mild range (severe in only one individual).

Rating Amber in view of the mild ID presentation. This may be reviewed if further cases are reported with more severe manifestations of relevant phenotypes.
Intellectual disability - microarray and sequencing v3.412 SCAF4 Arina Puzriakova Gene: scaf4 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.411 SCAF4 Arina Puzriakova commented on gene: SCAF4
Intellectual disability - microarray and sequencing v3.411 SCAF4 Arina Puzriakova Publications for gene: SCAF4 were set to
Intellectual disability - microarray and sequencing v3.226 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32730804; Phenotypes: intellectual disability, seizures, behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability - microarray and sequencing v3.91 SCAF4 Eleanor Williams Tag watchlist tag was added to gene: SCAF4.
Intellectual disability - microarray and sequencing v3.90 SCAF4 Eleanor Williams changed review comment from: ESHG2020 - C02.1 - SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders - Fliedner et al - report 9 unrelated patients with likely pathogenic variants in SCAF4 and mild developmental delay and intellectual disability. 8 de novo. 1 inherited. Seizures, skeletal, renal and cardiac anomalies were also seen.
Sources: Literature; to: Conference talk/abstract from ESHG2020 - C02.1 - SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders - Fliedner et al - report 9 unrelated patients with likely pathogenic variants in SCAF4 and mild developmental delay and intellectual disability. 8 de novo. 1 inherited. Seizures, skeletal, renal and cardiac anomalies were also seen.
Sources: Literature
Intellectual disability - microarray and sequencing v3.90 SCAF4 Eleanor Williams gene: SCAF4 was added
gene: SCAF4 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added comment: ESHG2020 - C02.1 - SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders - Fliedner et al - report 9 unrelated patients with likely pathogenic variants in SCAF4 and mild developmental delay and intellectual disability. 8 de novo. 1 inherited. Seizures, skeletal, renal and cardiac anomalies were also seen.
Sources: Literature