Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.8 | MAB21L1 | Achchuthan Shanmugasundram Classified gene: MAB21L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.8 | MAB21L1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 10 patients from five unrelated families reported with horizontal nystagmus and with biallelic MAB21L1 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.8 | MAB21L1 | Achchuthan Shanmugasundram Gene: mab21l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.7 | MAB21L1 |
Achchuthan Shanmugasundram gene: MAB21L1 was added gene: MAB21L1 was added to Albinism or congenital nystagmus. Sources: Literature Q2_26_promote_green tags were added to gene: MAB21L1. Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 27103078; 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome, OMIM:618479; cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Review for gene: MAB21L1 was set to GREEN Added comment: PMID:27103078 (2017) reported the identification of a homozygous frameshift variant in MAB21L1 gene (p.Cys246Leufs*18) in a boy with scrotum agensis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global developmental delay. Ocular anomalies included nystagmus, convergent strabismus and corneal dystrophy. There is also functional evidence available from knockout mice which presented a similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. PMID:30487245 (2019) reported the identification of four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from five consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Ocular features included horizontal nystagmus, bilateral corneal opacities/ corneal dystrophy, strabismus and retinal degeneration. Biallelic variants in this gene are associated with relevant phenotypes in OMIM (MIM #618479, last accessed 12 May 2026), Gene2Phenotype (with 'definitive' rating on the DD and Eye panels) and ClinGen (Strong rating by Syndromic disorders Expert panel - https://search.clinicalgenome.org/CCID:008388). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||