LMNB1

lamin B1
OMIM: 150340, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green LMNB1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 Tags SV/CNV
Green LMNB1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis
Amber LMNB1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis
Green LMNB1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LMNB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Green LMNB1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green LMNB1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 Tags SV/CNV
Green LMNB1 in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT ADLD Tags SV/CNV
Green LMNB1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant - MIM#619179