Cerebral Palsy

Gene: KMT2B

Green List (high evidence)

Additional individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.

Created: 27 May 2024, 6:36 a.m. | Last Modified: 27 May 2024, 6:36 a.m.

Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset MIM#617284; Intellectual developmental disorder, autosomal dominant MIM#619934

Publications

• PMID: 38693247

Green List (high evidence)

Three individual cases in two large CP cohort studies with confirmed mutations

Created: 8 Jun 2023, 3:05 a.m. | Last Modified: 8 Jun 2023, 3:05 a.m.

Panel Version: 1.86

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset MIM#617284; Intellectual developmental disorder, autosomal dominant MIM#619934

Publications

• 33528536
• 25666757

Red List (low evidence)

Progressive early-onset movement disorder (mean age 7 years). Variants not previously reported in patients with CP.
Sources: Literature

Created: 27 Sep 2021, 5:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset - #617284

Publications

• 29697234