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| Craniosynostosis v1.61 | FBXO11 |
Yetong Chen gene: FBXO11 was added gene: FBXO11 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO11 were set to 34429528; 30057029 Phenotypes for gene: FBXO11 were set to intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089 Review for gene: FBXO11 was set to GREEN Added comment: A total of 3 unrelated individuals are reported. PMID 34429528 reports a patient with a de novo FBXO11 variant (c.2731_2732insGACA, p.Thr911Argfs*5) who had craniosynostosis. PMID 30057029 reports 2 patients (patients 5 and 11) with monoallelic FBXO11 variants (c.2518T>C, p.Ser840Pro and c.1042−1G>C with unknown p.) who had sagittal and metopic craniosynostosis, respectively. Sources: Expert Review |
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| Craniosynostosis v1.56 | CDK13 |
Yetong Chen gene: CDK13 was added gene: CDK13 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 34429528; 28807008; 33288889 Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 Review for gene: CDK13 was set to GREEN Added comment: A total of 4 unrelated individuals are reported. PMID 34429528 reports a patient with a monoallelic CDK13 variant (c.2563G>C, p.Asp855His) who had metopic synostosis. PMID 28807008 mentioned 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided. PMID 33288889 reported a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis. Sources: Expert Review |
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| Craniosynostosis v1.47 | NFIA |
Calder Hamill gene: NFIA was added gene: NFIA was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIA were set to 36980886 Phenotypes for gene: NFIA were set to Craniosynostosis Penetrance for gene: NFIA were set to Incomplete Review for gene: NFIA was set to AMBER Added comment: A gene which has growing evidence in its association with craniosynostosis, most recently subject to review in in Tooze, R.S.; Calpena, E.; Weber, A.; Wilson, L.C.; Twigg, S.R.F.; Wilkie, A.O.M. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 2023, 14, 615. https://doi.org/10.3390/ genes14030615 > Four patients with craniosynostosis in independent families reported in the four papers below. >> deletion of 7765kb including this entire gene - craniosynostosis in chromosome 1p32-p31 deletion syndrome (Yoon 2019) >> del 1p32.3p31.2, g.53675707_66644963del- 13Mb del including the NFIA gene. (Tonne 2021) > Recently given green gene status in UK Panel App (2023) 1. Yoon, J.G.; Hahn, H.M.; Choi, S.; Kim, S.J.; Aum, S.; Yu, J.W.; Park, E.K.; Shim, K.W.; Lee, M.G.; Kim, Y.O. Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing. Neurosurgery 2020, 87, 294–302. [ 2. Tønne, E.; Due-Tønnessen, B.J.; Mero, I.L.; Wiig, U.S.; Kulseth, M.A.; Vigeland, M.D.; Sheng, Y.; von der Lippe, C.; Tveten, K.; Meling, T.R.; et al. Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. Eur. J. Hum. Genet. 2021, 29, 920–929. 3. Chen, J.; Zhang, P.; Peng, M.; Liu, B.; Wang, X.; Du, S.; Lu, Y.; Mu, X.; Lu, Y.; Wang, S.; et al. An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort. Front. Genet. 2022, 13, 967688. 4. Tønne, E.; Due-Tønnessen, B.J.; Vigeland, M.D.; Amundsen, S.S.; Ribarska, T.; Asten, P.M.; Sheng, Y.; Helseth, E.; Gilfillan, G.D.; Mero, I.L.; et al. Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways. Am. J. Med. Genet. A 2022, 188, 1464–1475. [CrossRef] [PubMed] Note also the additional case report: Bayat, Allana; Kirchhoff, Mariab; Madsen, Camilla G.d; Roos, Laurab; Kreiborg, Svenc,e. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. Clinical Dysmorphology 26(3):p 148-153, July 2017. | DOI: 10.1097/MCD.0000000000000182 Have not provided a high evidence review out of caution that some of the reported mutations have been microdeletions Sources: Literature |
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| Craniosynostosis v1.26 | B3GAT3 | Zornitza Stark Phenotypes for gene: B3GAT3 were changed from 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.18 | LTBP1 |
Chern Lim gene: LTBP1 was added gene: LTBP1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to cutis laxa syndrome Review for gene: LTBP1 was set to GREEN gene: LTBP1 was marked as current diagnostic Added comment: PMID:33991472 - Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families. - Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly). - Functional studies done on patient fibroblasts and zebrafish models. Sources: Literature |
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| Craniosynostosis v1.8 | SMO | Zornitza Stark Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, somatic mosaic, MIM# 601707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.7 | SMO | Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Curry-Jones syndrome, somatic mosaic, MIM# 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.135 | SMO | Zornitza Stark Tag somatic tag was added to gene: SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.120 | TMCO1 |
Zornitza Stark gene: TMCO1 was added gene: TMCO1 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 20018682; 24424126; 24194475 Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Review for gene: TMCO1 was set to AMBER Added comment: Craniosynostosis reported in a small number of affected individuals, also note founder mutation in Amish. Sources: Expert list |
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| Craniosynostosis v0.63 | SMO | Tiong Tan Marked gene: SMO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.63 | SMO | Tiong Tan Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.63 | SMO | Tiong Tan Classified gene: SMO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.63 | SMO | Tiong Tan Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.62 | SMO |
Tiong Tan gene: SMO was added gene: SMO was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMO were set to 27236920 Phenotypes for gene: SMO were set to Curry-Jones syndrome Penetrance for gene: SMO were set to Complete Mode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SMO was set to GREEN Added comment: Mosaic activating variants in SMO associated with Curry-Jones syndrome - craniosynostosis is a key feature. Sources: Literature |
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| Craniosynostosis v0.26 | DPH1 |
Tiong Tan gene: DPH1 was added gene: DPH1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 26220823 Phenotypes for gene: DPH1 were set to 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR Penetrance for gene: DPH1 were set to Complete Review for gene: DPH1 was set to AMBER Added comment: Multiple sibs from two unrelated families with DEDSSH syndrome, of which craniosynostosis was a component in some affected individuals. Sources: Literature |
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| Craniosynostosis v0.18 | B3GAT3 |
Tiong Tan gene: B3GAT3 was added gene: B3GAT3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 31438591 Phenotypes for gene: B3GAT3 were set to 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS Penetrance for gene: B3GAT3 were set to Complete Review for gene: B3GAT3 was set to GREEN Added comment: Craniosynostosis is a feature of B3GAT3-related joint dislocations. Reported in multiple unrelated individuals and summarised in PMID 31438591 (2019) Sources: Literature |
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