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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) |
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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. |
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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 |