Activity
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| Likely inborn error of metabolism v9.24 | TMEM251 | Ida Ertmanska commented on gene: TMEM251: Added new-gene-name tag, new approved HGNC gene symbol for TMEM251 is LYSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.24 | TMEM251 | Ida Ertmanska Tag new-gene-name tag was added to gene: TMEM251. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.24 | TMEM251 | Ida Ertmanska Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex, Ain-Naz type, OMIM:619345; dysostosis multiplex, Ain-Naz type, MONDO:0859156 to Dysostosis multiplex, Ain-Naz type, OMIM:619345; dysostosis multiplex, Ain-Naz type, MONDO:0859156; lysosomal storage disease with skeletal involvement, MONDO:0800088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.23 | TMEM251 | Ida Ertmanska edited their review of gene: TMEM251: Changed phenotypes to: Dysostosis multiplex, Ain-Naz type, OMIM:619345, dysostosis multiplex, Ain-Naz type, MONDO:0859156, lysosomal storage disease with skeletal involvement, MONDO:0800088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.23 | TMEM251 | Ida Ertmanska Classified gene: TMEM251 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.23 | TMEM251 | Ida Ertmanska Added comment: Comment on list classification: There are now four unrelated families reported where probands harboured biallelic TMEM251 (new name LYSET) variants and presented with severe skeletal dysplasia, stemming from abnormal lysosomal enzyme activity. Hence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.23 | TMEM251 | Ida Ertmanska Gene: tmem251 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.22 | TMEM251 |
Ida Ertmanska gene: TMEM251 was added gene: TMEM251 was added to Likely inborn error of metabolism. Sources: Literature Q3_26_promote_green tags were added to gene: TMEM251. Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM251 were set to 33252156; 40171858; 41858182 Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type, OMIM:619345; dysostosis multiplex, Ain-Naz type, MONDO:0859156 Review for gene: TMEM251 was set to GREEN Added comment: PMID: 41858182 Sperb-Ludwig et al., 2026 Report of a 3yo patient with a homozygous variant NM_001098621.4:c.112C>T (p.Gln38Ter) in LYSET. Method: WGS. Consanguineous Brazilian parents. The patient presented with contractures, facial dysmorphism, cardiac abnormalities, and severe skeletal dysplasia (osteopenia, brachycephaly, sella turcica J, hip subluxation, hypodevelopment of L2, and more). PMID: 40171858 Kariminejad et al., 2025 Report of two Iranian brothers with homozygous pathogenic variants in LYSET (c.197dupA, p.Tyr66Ter) and LYSET-related mucolipidosis. Clinical features: dysmorphic features, hepatomegaly, contractures, developmental delay, radiographs showed skeletal dysplasia (dysostosis multiplex - scapular hypoplasia, paddle-shaped ribs, ovoid vertebrae, widening of long bones. Elevated lysosomal hydrolase activity was noted in plasma, and reduced activity in blood of P1 - characteristic of ML1. Both brothers had short stature noted at 18 months: -2.67SD and -2SD. PMID:33252156 Ain et al., 2021 Report of two unrelated families (from Pakistan and Iran) with individuals presenting with a severe skeletal disorder. WES identified two homozygous variants (missense and nonsense) in TMEM251. The candidate variants segregated with 5 affected members of the first family. In the second family there was only 1 affected individual who was homozygous for the variant, 22 other unaffected members were either heterozygous or and wild type alleles. P2 had developmental delay and craniosynostosis in addition to skeletal abnormalities. Abnormal activities of three lysosomal enzymes detected from the sample of the patient from one family suggest that TMEM251 may have a metabolic role. (It was not possible to perform these tests in affected individuals in the other family). Some functional data: p.Arg45Trp mutant TMEM251 protein was targeted less efficiently and the localization was punctate in Golgi in osteosarcoma cells, and Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes). Sources: Literature |
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