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Intellectual disability v3.1511 | CTU2 | Arina Puzriakova Tag for-review was removed from gene: CTU2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1510 | CTU2 | Sarah Leigh commented on gene: CTU2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1509 | CTU2 |
Arina Puzriakova Source Expert Review Green was added to CTU2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Intellectual disability v3.475 | CTU2 | Arina Puzriakova Classified gene: CTU2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.475 | CTU2 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.475 | CTU2 | Arina Puzriakova Gene: ctu2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.474 | CTU2 | Arina Puzriakova Tag for-review tag was added to gene: CTU2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.33 | CTU2 | Rebecca Foulger Classified gene: CTU2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.33 | CTU2 | Rebecca Foulger Added comment: Comment on list classification: Gene was added to panel and rated Green by Zornitza Stark. Sufficient cases of global DD in PMID:31301155 in patients that survived infancy to support causation. Therefore updated rating from Grey to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.33 | CTU2 | Rebecca Foulger Gene: ctu2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.32 | CTU2 | Rebecca Foulger commented on gene: CTU2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.32 | CTU2 | Rebecca Foulger Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 to DREAMāPL syndrome; Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.0 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy. Sources: Expert list |