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Intellectual disability syndromic and non-syndromic

Gene: KMT2B

Green List (high evidence)

KMT2B (lysine methyltransferase 2B)
EnsemblGeneIds (GRCh38): ENSG00000272333
EnsemblGeneIds (GRCh37): ENSG00000272333
OMIM: 606834, Gene2Phenotype
KMT2B is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals reported in PMID 33150406 with heterozygous variants in this gene and intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly, normal MRIs and NO dystonia.
Created: 15 Jul 2022, 12:06 a.m. | Last Modified: 15 Jul 2022, 12:06 a.m.
Panel Version: 0.4854
Childhood-onset dystonia: ID described as part of the phenotype in some patients.
Created: 5 Dec 2019, 11:55 p.m. | Last Modified: 15 Jul 2022, 12:06 a.m.
Panel Version: 0.4854

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset 617284; MONDO:0015004; Intellectual developmental disorder, autosomal dominant 68, MIM# 619934

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Dystonia 28, childhood-onset 617284
  • MONDO:0015004
  • Intellectual developmental disorder, autosomal dominant 68, MIM# 619934
OMIM
606834
Clinvar variants
Variants in KMT2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset, MIM#617284 to Dystonia 28, childhood-onset 617284; MONDO:0015004; Intellectual developmental disorder, autosomal dominant 68, MIM# 619934

15 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KMT2B were set to

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2b has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset, MIM#617284

5 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KMT2B was added gene: KMT2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2B was set to Unknown