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Fetal anomalies

Gene: LMNB1

Green List (high evidence)

LMNB1 (lamin B1)
EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 9 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants associated with profound microcephaly - this was noted antenatally in 5 unrelated individuals (total of 8 individuals from 5 families reported)
Sources: Literature
Created: 1 Mar 2022, 4:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly 26, primary, autosomal dominant - MIM#619179

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 26, primary, autosomal dominant - MIM#619179
OMIM
150340
Clinvar variants
Variants in LMNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmnb1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmnb1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to 32910914 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant - MIM#619179 Review for gene: LMNB1 was set to GREEN