Fetal hydrops
Gene: KMT2D
KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. There are sufficient unrelated cases with prenatal hydrops and variants in this gene to rate as Green on this panel. KMT2D is also already Green on the GMS Fetal anomalies (R21) panel.Created: 14 Sep 2021, 3:08 p.m. | Last Modified: 14 Sep 2021, 3:08 p.m.
Panel Version: 1.35
Zornitza Stark (Australian Genomics)
There are reports of hydrops fetalis in Kabuki syndrome.
Sources: Expert listCreated: 30 Dec 2019, 6:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome
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
- Phenotypes
-
- Kabuki syndrome
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Anophthalmia or microphthalmia
- Kabuki syndrome
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Skeletal dysplasia
- COVID-19 research
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- Structural eye disease
- Monogenic short stature
- Choanal atresia
- Fetal hydrops
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- DDG2P
History Filter Activity
14 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: kmt2d has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: KMT2D was added gene: KMT2D was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 30293990; 27568880; 15690368 Phenotypes for gene: KMT2D were set to Kabuki syndrome Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic