LMNB1

PanelMode of inheritanceDetails
6 panels
R-numbers: R62
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LMNB1-associated developmental disorder
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly 26, primary, autosomal dominant, OMIM:619179
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microcephaly 26, primary, autosomal dominant, OMIM:619179
R-numbers: R88
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microcephaly 26, primary, autosomal dominant, OMIM:619179
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500