MKL2:Ensemblv90

MKL1/myocardin like 2
OMIM: 609463, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MKL2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), MKL2-related

Amber MKL2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), MKL2-related

Amber MKL2 in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Expert list
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), MKL2-related

Amber MKL2 in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), MKL2-related