Activity
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| Intellectual disability v9.300 | MAP4K4 | Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MAP4K4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | MAP4K4 | Arina Puzriakova edited their review of gene: MAP4K4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | MAP4K4 |
Arina Puzriakova Source NHS GMS was added to MAP4K4. Source Expert Review Green was added to MAP4K4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.14 | MAP4K4 | Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: MAP4K4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.14 | MAP4K4 | Arina Puzriakova Classified gene: MAP4K4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.14 | MAP4K4 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update - at least 26 individuals from 21 families reported with Rasopathy-like phenotype (PMID: 37126546). Clinical presentation is varied, but most display symptoms of neurodevelopmental conditions with features overlapping those observed in patients with RASopathies. DD/ID was one of the most common features (ID reported in 8/21 cases). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.14 | MAP4K4 | Arina Puzriakova Gene: map4k4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.13 | MAP4K4 | Arina Puzriakova Entity copied from DDG2P v6.1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.13 | MAP4K4 |
Arina Puzriakova gene: MAP4K4 was added gene: MAP4K4 was added to Intellectual disability. Sources: Literature,Expert Review Green,DD-Gene2Phenotype gene-checked tags were added to gene: MAP4K4. Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP4K4 were set to 36469137; 28518170; 37126546; 37126546 Phenotypes for gene: MAP4K4 were set to MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; multiple congenital anomalies; neurodevelopmental differences Mode of pathogenicity for gene: MAP4K4 was set to Other |
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