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Cerebral Palsy v1.270 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Classified gene: EHMT1 as Red List (low evidence)
Cerebral Palsy v1.270 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 EHMT1 Clare van Eyk gene: EHMT1 was added
gene: EHMT1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHMT1 were set to PMID: 38693247
Phenotypes for gene: EHMT1 were set to Kleefstra syndrome, MIM#610253
Review for gene: EHMT1 was set to RED
Added comment: Single individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature