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| Paediatric pseudo-obstruction syndrome v0.216 | LMOD1 | Achchuthan Shanmugasundram commented on gene: LMOD1: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.73 | LMOD1 |
Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: This gene should be rated GREEN, as this gene has been implicated in megacystis microcolon intestinal hypoperistalsis syndrome in two unrelated patients and is supported by evidence from mouse model. A dutch female infant identified with homozygous nonsense variant (p.R370X) died at 5 days of life. Both her parents were heterozygous for the same variant. The clinical presentations include distended and lax abdominal wall, with palpable intestines, bladder distention, bilateral distention of the proximal ureters, and hydronephrosis (PMID:28292896). A male infant with compound heterozygous missense variants (p.T369M; p.R421H) was also presented with typical symptoms of pediatric intestinal pseudo-obstruction (PIPO) but without megacystis and microcolon (PMID:35170814). A mouse model with a similar Lmod1 mutation, engineered with CRISPR-Cas9 genome editing, exhibited the same gastrointestinal and urinary bladder phenotypes as seen in the dutch female infant (PMID:28292896).; to: Comment on classification of this gene: This gene should be rated GREEN, as this gene has been implicated in megacystis microcolon intestinal hypoperistalsis syndrome in two unrelated patients and is supported by evidence from mouse model. A dutch female infant identified with homozygous nonsense variant (p.R370X) died at 5 days of life. Both her parents were heterozygous for the same variant. The clinical presentations include distended and lax abdominal wall, with palpable intestines, bladder distention, bilateral distention of the proximal ureters, and hydronephrosis (PMID:28292896). A male infant with compound heterozygous missense variants (p.T369M; p.R421H) was also presented with typical symptoms of pediatric intestinal pseudo-obstruction (PIPO) but without megacystis and microcolon (PMID:35170814). A mouse model with a similar Lmod1 mutation, engineered with CRISPR-Cas9 genome editing, exhibited the same gastrointestinal and urinary bladder phenotypes as seen in the dutch female infant (PMID:28292896). This gene-disease association has already been reported in OMIM. |
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| Paediatric pseudo-obstruction syndrome v0.73 | LMOD1 | Achchuthan Shanmugasundram Publications for gene: LMOD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.72 | LMOD1 | Achchuthan Shanmugasundram Phenotypes for gene: LMOD1 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.71 | LMOD1 | Achchuthan Shanmugasundram Mode of inheritance for gene: LMOD1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.70 | LMOD1 | Achchuthan Shanmugasundram Classified gene: LMOD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.70 | LMOD1 | Achchuthan Shanmugasundram Gene: lmod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.69 | LMOD1 | Achchuthan Shanmugasundram reviewed gene: LMOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28292896, 35170814; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | LMOD1 | Eleanor Williams reviewed gene: LMOD1: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal LMOD1 leads to impaired intestinal smooth muscle contractility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | LMOD1 |
Eleanor Williams gene: LMOD1 was added gene: LMOD1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: LMOD1 was set to |
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