Hydrops fetalis
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
George McGillivray (Victorian Clinical Genetics Services)
In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D.
Sources: Expert listCreated: 30 Dec 2019, 6:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome
Publications
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
-
- 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 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmt2d has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
George McGillivray (Victorian Clinical Genetics Services)gene: KMT2D was added gene: KMT2D was added to Hydrops fetalis_VCGS. 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