Cerebral Palsy
Gene: KMT2D
KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 23 panels
1 review
Clare van Eyk (University of Adelaide)
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.Created: 3 Sep 2024, 3:34 a.m. | Last Modified: 3 Sep 2024, 3:34 a.m.
Panel Version: 1.367
2 individuals with mono-allelic splice variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 6:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, MIM#147920
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Kabuki syndrome 1, MIM#147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Combined Immunodeficiency
- Hyperinsulinism
- Clefting disorders
- Kabuki syndrome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hand and foot malformations
- Congenital hypothyroidism
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Choanal atresia
- Mendeliome
- Congenital diaphragmatic hernia
- Growth failure
- Cerebral Palsy
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmt2d has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmt2d has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)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