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Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
Intellectual disability v4.83 TASP1 Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 31209944; 31350873
Intellectual disability 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 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 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 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 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 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 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 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 v3.1511 TASP1 Arina Puzriakova Tag for-review was removed from gene: TASP1.
Intellectual disability v3.1510 TASP1 Sarah Leigh commented on gene: TASP1
Intellectual disability 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 v3.262 TASP1 Arina Puzriakova Tag for-review tag was added to gene: TASP1.
Intellectual disability v3.262 TASP1 Arina Puzriakova Classified gene: TASP1 as Amber List (moderate evidence)
Intellectual disability 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 v3.262 TASP1 Arina Puzriakova Gene: tasp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability 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