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| Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Classified gene: LRRC32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Gene: lrrc32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.103 | LRRC32 |
Achchuthan Shanmugasundram gene: LRRC32 was added gene: LRRC32 was added to Clefting. Sources: Literature founder-effect tags were added to gene: LRRC32. Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC32 were set to 30976112; 35656379 Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Review for gene: LRRC32 was set to AMBER Added comment: PMID:30976112 reported two unrelated families with global developmental delay, cleft palate, and proliferative retinopathy and they were identified with the same homozygous LRRC32 variant c.1630C>T/ p.Arg544Ter. This variant was suggested to be founder variant, as indicated by haplotype analysis. PMID:35656379 reported a different homozygous LRRC32 variant (c.1354 G > A/ p.Glu452Lys) in a 15-year-old male with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy. This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype. Sources: Literature |
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