L3MBTL1

L3MBTL histone methyl-lysine binding protein 1
OMIM: 608802, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red L3MBTL1 in Mendeliome


Version 2.55

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Affected tissue: myeloid lineages
  • Phenotype resulting from under expression: lymphoid malignancy

Red L3MBTL1 in Imprinting disorders


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: myeloid lineages
  • Phenotype resulting from under expression: lymphoid malignancy