Paediatric pseudo-obstruction syndrome
Gene: MYLK
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.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on rating: The rating should be GREEN as this gene has been implicated in Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MIM #249210) from two unrelated cases, and supported by results from functional studies.
Two families were identified with homozygous variants (7bp deletion in one family and putative splice-site variant in other) and were reported with the death of 5 children with MMIHS from these families (PMID:28602422). In addition, the existence of a conditional-Mylk-knockout mouse model with severe gut dysmotility and abnormal function of the bladder supports this gene-disease association.
This gene-disease association has already been reported in both OMIM and G2P.Created: 29 Dec 2022, 7:44 p.m. | Last Modified: 29 Dec 2022, 7:44 p.m.
Panel Version: 0.93
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Myopathic PIPO/MMIHS. Protein function: Encodes a kinase required for myosin activation and subsequent interaction with actin filaments.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal MYLK leads to impaired smooth muscle cell contraction
Publications
Phenotypes for gene: MYLK were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Publications for gene: MYLK were set to
Mode of inheritance for gene: MYLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mylk has been classified as Green List (High Evidence).
gene: MYLK was added gene: MYLK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: MYLK was set to