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| Cerebral Palsy v1.367 | KMT2D | Clare van Eyk edited their review of gene: KMT2D: Added comment: Additional individual with de novo splice variant reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonia, DD, ASD, dysmorphic features. No functional assessment of variant impact.; Changed publications: PMID: 38693247, PMID: 39213953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.258 | KMT2D | Zornitza Stark Marked gene: KMT2D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.258 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.258 | KMT2D | Zornitza Stark Classified gene: KMT2D as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.258 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | KMT2D |
Clare van Eyk gene: KMT2D was added gene: KMT2D was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to PMID: 38693247 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM#147920 Review for gene: KMT2D was set to AMBER Added comment: 2 individuals with mono-allelic splice variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Sources: Literature |
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