Activity
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| Structural eye disease v5.10 | C16orf62 | Ida Ertmanska Phenotypes for gene: C16orf62 were changed from Ritscher-Schinzel syndrome 3, OMIM:619135 to Ritscher-Schinzel syndrome 3, OMIM:619135; Ritscher-Schinzel syndrome 3, MONDO:0030864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.9 | C16orf62 | Ida Ertmanska Publications for gene: C16orf62 were set to 31712251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.8 | C16orf62 | Ida Ertmanska commented on gene: C16orf62: Comment on list classification: There are now 5 unrelated probands reported in literature with biallelic VPS35L (old name C16orf62) variants, and Ritscher-Schinzel syndrome. Both missense and nonsense variants have been reported. Of 5 probands, 3 were noted to have eye anomalies: one with coloboma & microphthalmia, and 2 probands with glaucoma. Based on the variable phenotype, this gene should remain Amber on Structural eye disease, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.8 | C16orf62 |
Ida Ertmanska edited their review of gene: C16orf62: Added comment: PMID: 42144185 Carelli et al., 2026 Case report of a North African male infant with Ritscher-Schinzel syndrome, harbouring a homozygous VPS35L variant (NM_020314.7: c.881T > C; p.(Phe294Ser)). Method: Trio WES. Proband presented with failure to thrive, with a weight of 2020 g (−2.9 SDS), length of 45 cm (−7.8 SDS), and head circumference of 31 cm (−7.5 SDS). He also had facial dysmorphism, severe axial hypotonia, limb anomalies including bilateral ulnar deviation of the fingers, splenomegaly, suspected unilateral cryptorchidism. Brain MRI showed multiple anomalies, particularly cerebellar and cortical dysplasia. No evident neurodevelopmental delay at 14 months. Trio exome detected a homozygous VPS35L variant NM_020314.7:c.881T > C; p.(Phe294Ser) in the proband, parents confirmed het. PMID: 36113987 Otsuji et al., 2023 Reported 3 unrelated patients with biallelic VPS35L variants. Overlapping clinical features included GDD, ID (mild in 2 individuals and profound in 1), short stature (short stature between −2 and −3 SD in 2 probands, and -6 SD in one), brain anomalies on imaging, craniofacial dysmorphism, ophthalmological malformation (glaucoma in 2/3), skeletal complications (Brachymelia/Brachydactyly in 2 probands and reduced distal creases in 3), and cryptorchidism. 2 probands had biallelic nonsense variants, while the third proband, most severely affected, was homozygous for a missense variant VPS35L: p.P876L. PMID: 31712251 Kato et al., 2020 Report of 2 sibs with Ritscher-Schinzel syndrome and compound heterozygous pathogenic variants (c.1097dup; p.Cys366Trpfs*28 and c.2755G>A; p.Ala919Thr) in VPS35L. The individuals presented with cranio-cerebello-cardiac dysplasia, coloboma, microphthalmia, chondrodysplasia punctata and complicated skeletal malformation. VPS35L is associated with AR Ritscher-Schinzel syndrome 3, OMIM:619135 (OMIM accessed 23rd Oct 2026).; Changed rating: AMBER; Changed publications to: 31712251, 36113987, 42144185; Changed phenotypes to: Ritscher-Schinzel syndrome 3, OMIM:619135, Ritscher-Schinzel syndrome 3, MONDO:0030864; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Structural eye disease v4.44 | C16orf62 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype added 1st May 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.44 | C16orf62 | Ida Ertmanska Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome 3, OMIM:619135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.43 | C16orf62 | Ida Ertmanska Tag gene-checked tag was added to gene: C16orf62. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.7 | C16orf62 | Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.7 | C16orf62 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 31712251). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.7 | C16orf62 | Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.6 | C16orf62 |
Sarah Leigh gene: C16orf62 was added gene: C16orf62 was added to Structural eye disease. Sources: Literature new-gene-name tags were added to gene: C16orf62. Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 31712251 Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome Review for gene: C16orf62 was set to AMBER Added comment: The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L) Sources: Literature |
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