Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.87 | ZSCAN10 | Ida Ertmanska Classified gene: ZSCAN10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.87 | ZSCAN10 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic ZSCAN10 variants and syndromic intellectual disability with motor developmental delay. Hence, this gene should be promoted to Green on Intellectual disability with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.87 | ZSCAN10 | Ida Ertmanska Gene: zscan10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.86 | ZSCAN10 |
Ida Ertmanska gene: ZSCAN10 was added gene: ZSCAN10 was added to Intellectual disability. Sources: Literature Q3_26_promote_green tags were added to gene: ZSCAN10. Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSCAN10 were set to 38386308; 40605417 Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910 Review for gene: ZSCAN10 was set to GREEN Added comment: PMID: 38386308 Laugwitz et al., 2024 Report of 7 individuals from 5 unrelated families (3 consanguineous) with biallelic ZSCAN10 variants and a neurodevelopmental disorder with facial dysmorphism. All 7 probands harboured biallelic nonsense variants. Cognitive impairment was mild (1), moderate (3) or severe (3) in these patients, with moderate to profound delay of motor development. 4/7 probands also had a hearing impairment (1 with unilateral deafness only). Other less consistent features included microgenitalia (2/7), heart defects (1/7) and cleft palate (1/7). 3 individuals had unspecified vision impairment. PMID: 40605417 Alfalah et al., 2025 Research letter describing a male patient from a consanguineous Saudi family with mild cognitive impairment, moderate motor delay, ADHD, left SNHL, and vision impairment (myopia the vision is 20/40 bilateral ptosis). He had a clinical diagnosis of Goldenhar syndrome. He harboured a homozygous ZSCAN10 variant NM_032805.3: c.598_602del, p.Pro200Lysfs*48. Het parents unaffected. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||