Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.23 | MYH10 | Achchuthan Shanmugasundram Classified gene: MYH10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.23 | MYH10 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Four of six patients from three unrelated families were reported with monoallelic MYH10 variants and ocular coloboma. In addition, functional evidence from patient fibroblasts and delayed eye development in zebrafish model support the association. However, this gene should be currently rated amber as coloboma was not consistently reported in all six patents from PMID:40044823 and was entirely absent in the previously reported cohort with neurodevelopmental phenotype (PMID:35980381). The 'watchlist' tag has been added to review this gene for any new evidence in the future. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.23 | MYH10 | Achchuthan Shanmugasundram Gene: myh10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.22 | MYH10 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: MYH10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.22 | MYH10 | Achchuthan Shanmugasundram Phenotypes for gene: MYH10 were changed from Autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features to neurodevelopmental disorder, MONDO:0700092; coloboma, MONDO:0001476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.21 | MYH10 | Achchuthan Shanmugasundram edited their review of gene: MYH10: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, coloboma, MONDO:0001476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.21 | MYH10 | Achchuthan Shanmugasundram Publications for gene: MYH10 were set to PMID: 40044823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.20 | MYH10 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.20 | MYH10 |
Achchuthan Shanmugasundram changed review comment from: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient. PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model. This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM>; to: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient. PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model. This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.20 | MYH10 |
Achchuthan Shanmugasundram commented on gene: MYH10: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient. PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model. This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM> |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.20 | MYH10 | Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: None; Publications: 35980381, 40044823; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.18 | MYH10 |
Hannah Knight gene: MYH10 was added gene: MYH10 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH10 were set to PMID: 40044823 Phenotypes for gene: MYH10 were set to Autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features Review for gene: MYH10 was set to GREEN Added comment: PMID: 40044823 reported six individuals from 3 unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features suggesting Baraitser-Winter cerebrofrontofacial syndrome. No neurodevelopmental features. 3 novel heterozygous variants in the MYH10 gene reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||