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Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability - microarray and sequencing v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 31209944; 31350873
Intellectual disability - microarray and sequencing v4.82 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.82 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.82 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.82 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.81 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.81 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.81 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v4.81 TASP1 Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Suleiman-El-Hattab syndrome, OMIM:618950
Intellectual disability - microarray and sequencing v3.1511 TASP1 Arina Puzriakova Tag for-review was removed from gene: TASP1.
Intellectual disability - microarray and sequencing v3.1510 TASP1 Sarah Leigh commented on gene: TASP1
Intellectual disability - microarray and sequencing v3.1509 TASP1 Arina Puzriakova Source Expert Review Green was added to TASP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.262 TASP1 Arina Puzriakova Tag for-review tag was added to gene: TASP1.
Intellectual disability - microarray and sequencing v3.262 TASP1 Arina Puzriakova Classified gene: TASP1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.262 TASP1 Arina Puzriakova Added comment: Comment on list classification: Sufficient cases for a GREEN rating at the next major review.

Associated with phenotype in OMIM, and a possible gene for Developmental delay, happy demeanor, distinctive facial features, and congenital anomalies in G2P.

Four unrelated patients with homozygous LOF variants in this gene all exhibited a consistent phenotype which included global developmental delay. All variants segregated with disease, but no functional studies of the variants or patient cells were not performed.
Intellectual disability - microarray and sequencing v3.262 TASP1 Arina Puzriakova Gene: tasp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.3 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
gene: TASP1 was marked as current diagnostic
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Expert list