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  2. Radial Ray Abnormalities
  3. LMBR1
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Radial Ray Abnormalities

Gene: LMBR1

Green List (high evidence)
LMBR1 (limb development membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000105983
EnsemblGeneIds (GRCh37): ENSG00000105983
OMIM: 605522, Gene2Phenotype
LMBR1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list
Created: 23 Jul 2020, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Laurin-Sandrow syndrome, MIM# 135750

Created: 23 Jul 2020, 8:11 a.m.

Panel version: 0.52

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Laurin-Sandrow syndrome, MIM# 135750
Tags
SV/CNV
OMIM
605522
Clinvar variants
Variants in LMBR1
Penetrance
None
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmbr1 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmbr1 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMBR1 was added gene: LMBR1 was added to Radial Ray Abnormalities. Sources: Expert list SV/CNV tags were added to gene: LMBR1. Mode of inheritance for gene: LMBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome, MIM# 135750 Review for gene: LMBR1 was set to GREEN