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  2. Gastrointestinal neuromuscular disease
  3. LMOD1
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Gastrointestinal neuromuscular disease

Gene: LMOD1

Amber List (moderate evidence)
LMOD1 (leiomodin 1)
EnsemblGeneIds (GRCh38): ENSG00000163431
EnsemblGeneIds (GRCh37): ENSG00000163431
OMIM: 602715, Gene2Phenotype
LMOD1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362

Created: 4 Jun 2021, 1:05 a.m.
Last Modified: 4 Jun 2021, 1:05 a.m.
Panel version: 0.36

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case reported with a homozygous truncating variant and a supporting mouse model that recapitulates the human phenotype.
Created: 3 Jul 2020, 6:06 a.m. | Last Modified: 3 Jul 2020, 6:06 a.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis microcolon intestinal hypoperistalsis syndrome

Publications

Created: 3 Jul 2020, 6:06 a.m.
Last Modified: 3 Jul 2020, 6:06 a.m.
Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
OMIM
602715
Clinvar variants
Variants in LMOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMOD1 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmod1 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LMOD1 was added gene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD1 were set to 28292896 Phenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome