LMNB2

lamin B2
OMIM: 150341, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber LMNB2 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Lipodystrophy, partial, acquired, susceptibility to} 608709
Green LMNB2 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Lipodystrophy, partial, acquired, susceptibility to} 608709 Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly, Intellectual disability
Green LMNB2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly Global developmental delay Intellectual disability
Amber LMNB2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Epilepsy, progressive myoclonic, 9 MIM#616540
Green LMNB2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly Global developmental delay Intellectual disability
Red LMNB2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Lipodystrophy, partial
Green LMNB2 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant - MIM#619180
Red LMNB2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lipodystrophy, partial