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Intellectual disability

Gene: KMT5B

Green List (high evidence)

KMT5B (lysine methyltransferase 5B)
EnsemblGeneIds (GRCh38): ENSG00000110066
EnsemblGeneIds (GRCh37): ENSG00000110066
OMIM: 610881, Gene2Phenotype
KMT5B is in 5 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Sufficient cases of patients with ID to rate green
Created: 15 Jun 2019, 3:46 p.m.
KMT5B is associated with Mental retardation, autosomal dominant 51 (#617788) in OMIM and KMT5B syndrome
on Gene2phenotype. v syndrome has intellectual disability and overgrowth listed as phenotypes.

PMID: 29276005 - Faundes et al 2018 - looked at patients from the Deciphering Developmental Disorders (DDD) study that high-quality-call genetic variants in methyltransferases (KMTs) and demethylases (KDMs) not yet firmly associated with DDs. 4 patients identified with either variants or deletions in KMT5B. 2 had nonsense variants, 2 had deletions encompassing KMT5B (399 kb and 839 kb). All had mild to severe intellectual disability. 2 also had seizures.

PMID: 28191889 - Stessman et al 2017 - they sequenced the coding and splicing portions of 208 potential NDD risk genes in over 11,730 ASD, ID, and DD cases. 3 of the patients (patients 5, 6, and 7) had previously been reported by Iossifov et al. (2014). From OMIM: In 7 unrelated patients with autosomal dominant mental retardation-51 (MRD51; 617788), Iossifov et al. (2014) and Stessman et al. (2017) identified 7 different heterozygous variants in the KMT5B gene. Four of the variants were categorized as 'likely gene disruptive' (LGD) events, such as nonsense or frameshift variants, and 3 were missense variants predicted to be deleterious. Five of the variants were demonstrated to have occurred de novo. One missense variant was maternally inherited without clinical information on the mother, and parental DNA was not available from another patient to determine segregation.

PMID: 25363768 - Iossifov et al 2014 - see Stressman et al 2017
Created: 15 Jun 2019, 3:44 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals with de novo variants in this gene reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 11:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 51

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 51, 617788
OMIM
610881
Clinvar variants
Variants in KMT5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KMT5B were set to 29276005, 28191889, 25363768

15 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51 to Mental retardation, autosomal dominant 51, 617788

15 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kmt5b has been classified as Green List (High Evidence).

15 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kmt5b has been classified as Green List (High Evidence).

15 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kmt5b has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KMT5B.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

KMT5B was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

KMT5B was created by Zornitza Stark