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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | MAN2B1 | Eleanor Williams Tag Q2_23_promote_green was removed from gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | MAN2B1 | Eleanor Williams reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 | MAN2B1 |
Eleanor Williams Source Expert Review Green was added to MAN2B1. Source NHS GMS was added to MAN2B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.40 | MAN2B1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.40 | MAN2B1 | Achchuthan Shanmugasundram Classified gene: MAN2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.40 | MAN2B1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are three unrelated cases identified with biallelic variants in MAN2B1 gene presented with craniosynostosis, although there are several other cases identified with biallelic variants in MAN2B1, who did not present with craniosynostosis. As there are three unrelated cases with craniosynostosis, this gene can be promoted to GREEN rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.40 | MAN2B1 | Achchuthan Shanmugasundram Gene: man2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.39 | MAN2B1 | Achchuthan Shanmugasundram Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, OMIM:248500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.38 | MAN2B1 | Achchuthan Shanmugasundram Publications for gene: MAN2B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.37 | MAN2B1 | Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33288889, 34429528, 35242565; Phenotypes: Mannosidosis, alpha-, types I and II, OMIM:248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | MAN2B1 |
Rebecca Tooze gene: MAN2B1 was added gene: MAN2B1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: MAN2B1 was set to GREEN Added comment: • A Norwegian study of patients with craniosynostosis identified a homozygous missense variant in MAN2B1: c.1055 T>C; p.(Leu352Pro) (Tønne et al., 2021). • Compound heterozygous variant were identified through screening 114 families with craniosynostosis within the UK 100kGP: c.1830+1G>C; p.(?) and c.2248C>T; p.(Arg750Trp) (Hyder et al., 2021). • One patient out of 12 with recessive variants in MAN2B1 was described with craniosynostosis: c.2245C>T; p.(Arg749Trp), and c.2355G>A; p.(Thr785*) (Lipiński et al., 2022). Sources: Literature |
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