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| Craniosynostosis v1.61 | MAN2B1 |
Yetong Chen gene: MAN2B1 was added gene: MAN2B1 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 34429528; 33288889; 35242565 Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500 Review for gene: MAN2B1 was set to GREEN Added comment: A total of 3 unrelated individuals are reported. PMID 34429528 reports a patient (case 1) with compound heterozygous MAN2B1 variants (c.1830+1G>C and c.2248C>T) who had craniosynostosis. PMID 33288889 reports a patient with recessive MAN2B1 variants (c.1055 T > C,p.Leu352Pro) who presented craniosynostosis. PMID 35242565 reports a patient (patient 3) with compound heterozygous MAN2B1 variants (c.2245C > T, p.Arg749Trp and c.2355G > A, p.Thr785*) who had craniosynostosis. Sources: Expert Review |
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| Craniosynostosis v1.61 | IL6ST |
Yetong Chen gene: IL6ST was added gene: IL6ST was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 32566365; 28747427 Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Review for gene: IL6ST was set to AMBER Added comment: PMID 32566365 describes a patient with homozygous IL6ST variants (p.R281Q) who had craniosynostosis. Abnormalities in nasofrontal sutures and reduced interdigitation of premaxillary sutures were seen in mouse models with homozygous R281Q variants in the IL6ST gene. PMID 28747427 report a patient with homozygous IL6ST variants (p.N404Y) who had craniosynostosis. Sources: Expert Review |
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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 v1.61 | KAT6B |
Yetong Chen gene: KAT6B was added gene: KAT6B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to 33288889; 28696035 Phenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM# 603736 Review for gene: KAT6B was set to GREEN Added comment: Three unrelated patients are reported. PMID 33288889 reports a patient with a KAT6B variant (c.3769_3772del, p.Lys1258Glyfs*13) who was diagnosed with craniosynostosis. PMID 28696035 reports 2 patients with different monoallelic KAT6B variants (c.4572dupT, p.Thr1525Tyrfs*16 and c.4205_4206delCT, p.Ser1402Cysfs*5, respectively) who had sagittal craniosynostosis. Sources: Expert Review |
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| Craniosynostosis v1.56 | CDK13 |
Yetong Chen changed review comment from: 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; to: 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 mentions 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided. PMID 33288889 reports a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis. Sources: Expert Review |
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| Craniosynostosis v1.56 | 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 v1.56 | ARID1B |
Yetong Chen gene: ARID1B was added gene: ARID1B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 36118902; 34429528; 27474218; 32530565 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM# 135900 Review for gene: ARID1B was set to GREEN Added comment: A total of 4 unrelated individuals are reported. PMID 36118902 reports a patient with an ARID1B variant (chr6:g.157431670_157431676 delCCAGTCA) who presented with sagittal craniosynostosis. PMID 34429528 identifies a patient (case 16) with an ARID1B variant (c.3594delinsCCCCCA) by screening 127 families classified with craniosynostosis. PMID 27474218 reported a patient (patient 10) with an ARID1B variant (c.1468_1472delTGGGC) who presented with craniosynostosis. PMID 32530565 listed a patient (OKI-047-1 M) harbouring an ARID1B variant (c.2277delC) who had trigonocephaly. Sources: Expert Review |
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| Craniosynostosis v1.56 | NFIX |
Yetong Chen gene: NFIX was added gene: NFIX was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIX were set to 33288889; 35997807 Phenotypes for gene: NFIX were set to Malan syndrome, MIM# 614753 Review for gene: NFIX was set to GREEN Added comment: PMID 33288889 reports a patient with an NFIX variant (c.143 T > A, p.Met48Lys) who presented craniosynostosis. PMID 35997807: Of 25 patients with lambdoid craniosynostosis, 4 unrelated patients carried NFIX variants. The patient with the c.143 T > A (p.Met48Lys) variant of the NFIX gene has been reported by PMID 33288889. Sources: Expert Review |
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| Craniosynostosis v1.56 | AHDC1 |
Yetong Chen gene: AHDC1 was added gene: AHDC1 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to 27884935; 30858058; 30152016; 27148574; 33288889 Phenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM# 615829 Review for gene: AHDC1 was set to GREEN Added comment: More than 3 unrelated individuals are reported. PMID 27884935 scanned craniosynostosis patients and identified an AHDC1 variant (c.2373_2374delTG, p.C791fs*57) from a patient with craniosynostosis. PMID 30858058 reports a patient with a heterozygous AHDC1 variant (c.4370 A>G, p.Asp1457Gly) who had craniosynostosis. PMID 30152016 reports a patient (patient 1) with a heterozygous AHDC1 variant (c.2473C>T; p.Q825*) who had craniosynostosis. PMID 27148574 reports a patient (patient 3) with an AHDC1 variant (c.1881delG p.Q627Hfs*105) who had sagittal craniosynostosis. PMID 33288889: Of 94 individuals with syndromic craniosynostosis, 2 individuals carried AHDC1 variants (c.3185_3186del p.(Thr1062Serfs*63) and c.2772del p.(Arg925Glufs*7), respectively). Sources: Expert Review |
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| Craniosynostosis v1.55 | RARA |
Krithika Murali changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short upper and lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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| Craniosynostosis v1.55 | RARA |
Krithika Murali changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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| Craniosynostosis v1.55 | RARA |
Krithika Murali gene: RARA was added gene: RARA was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RARA were set to PMID: 37086723 Phenotypes for gene: RARA were set to Craniosynostosis - MONDO:0015469 Review for gene: RARA was set to AMBER Added comment: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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| Craniosynostosis v1.47 | BCL11B |
Calder Hamill gene: BCL11B was added gene: BCL11B was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BCL11B were set to 36980886; 34900871 Phenotypes for gene: BCL11B were set to Craniosynostosis Penetrance for gene: BCL11B were set to Incomplete Review for gene: BCL11B was set to GREEN Added comment: The potential gene disease association between BCL11B and craniosynostosis was a topic 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 Summary of evidence: >There are seven families with variants in BCL11B and confirmed craniosynostosis >There are two green reviews in UK Panel App >A de novo substitution was described in BCL11B (c.7C>A; p.(Arg3Ser)) - further mouse model data Goos, J.A.C.; Vogel, W.K.; Mlcochova, H.; Millard, C.J.; Esfandiari, E.; Selman, W.H.; Calpena, E.; Koelling, N.; Carpenter, E.L.; Swagemakers, S.M.A.; et al. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. Hum. Mol. Genet. 2019, 28, 2501–2513. > a de novo frameshift variant in BCL11B, identified by whole-exome sequencing: c.2346_2361del; p.(Gly783Alafs*24) Zhao, X.; Wu, B.; Chen, H.; Zhang, P.; Qian, Y.; Peng, X.; Dong, X.; Wang, Y.; Li, G.; Dong, C.; et al. Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay. Front. Pediatr. 2022, 10, 982361 > A de novo loss of function variant has been described in a patient with developmental delay and craniosynostosis: c.2439_2452dup; p.(His818Argfs*31) Eto, K.; Machida, O.; Yanagishita, T.; Shimojima Yamamoto, K.; Chiba, K.; Aihara, Y.; Hasegawa, Y.; Nagata, M.; Ishihara, Y.; Miyashita, Y.; et al. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Hum. Genome Var. 2022, 9, 43 The following evidence first noted from review by Helen Lord in UK PanelApp: PMID 34900871 Gaillard et al, 2021, reported 4 patients with BCL11B variants Patient A: c.2000G>A p.(Gly667Glu) het left sided congernital diaphragmatic hernia (CDH) and progressive sagittal synostosis. Maternally inherited. Patient B: c.1744G>A p.(Gly582Ser) het sagittal and bilambdoid synostosis. Paternally inherited. Patient C: c.2018C>G p.(Pro673Arg) het left unicoronal synostosis. Maternally inherited. Patient D: c.1265C>T p.(Pro422Leu) het sagittal synostosis. Maternally inherited. Parentally inherited in some instances suggesting incomplete penetrance Sources: Literature |
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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 v1.47 | PRRX1 |
Calder Hamill gene: PRRX1 was added gene: PRRX1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRX1 were set to 36980886 Phenotypes for gene: PRRX1 were set to Craniosynostosis Penetrance for gene: PRRX1 were set to Incomplete Mode of pathogenicity for gene: PRRX1 was set to Other Review for gene: PRRX1 was set to GREEN Added comment: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, predicting loss of function variants or missense variants affecting the homeodomain. > These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent (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) Supporting evidence: > Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development. (Wilk, K.; Yeh, S.A.; Mortensen, L.J.; Ghaffarigarakani, S.; Lombardo, C.M.; Bassir, S.H.; Aldawood, Z.A.; Lin, C.P.; Intini, G. Postnatal Calvarial Skeletal Stem Cells Expressing PRX1 Reside Exclusively in the Calvarial Sutures and Are Required for Bone Regeneration. Stem Cell Rep. 2017, 8, 933–946.) >Prrx1 has been shown to be widely expressed within the mouse coronal suture. (Farmer, D.T.; Mlcochova, H.; Zhou, Y.; Koelling, N.; Wang, G.; Ashley, N.; Bugacov, H.; Chen, H.J.; Parvez, R.; Tseng, K.C.; et al. The developing mouse coronal suture at single-cell resolution. Nat. Commun. 2021, 12, 4797) Sources: Literature |
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| Craniosynostosis v1.32 | TSHR |
Krithika Murali changed review comment from: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Sources: Literature; to: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Biallelic LoF variants associated with congenital hypothyroidism, CS not a feature. Sources: Literature |
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| Craniosynostosis v1.32 | TSHR |
Krithika Murali gene: TSHR was added gene: TSHR was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9589634; 18655531; 10095169; 8981019; 16260895; 16960398; 11081252; 18528812; 30599487; 20138963 Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hyperthyroidism, familial gestational - MIM#603373; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Review for gene: TSHR was set to GREEN Added comment: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Sources: Literature |
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| Craniosynostosis v1.27 | GNB1 |
Zornitza Stark gene: GNB1 was added gene: GNB1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 32134617 Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Review for gene: GNB1 was set to GREEN Added comment: Over 50 affected individuals reported. Cleft palate present in >20%. Sources: Literature |
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| Craniosynostosis v1.25 | GINS2 |
Zornitza Stark gene: GINS2 was added gene: GINS2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS2 were set to 34353863 Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis Review for gene: GINS2 was set to RED Added comment: Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included. GINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date. Sources: Literature |
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| Craniosynostosis v1.12 | TRAF7 |
Zornitza Stark gene: TRAF7 was added gene: TRAF7 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRAF7 were set to 32459067; 32376980; 29961569 Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Review for gene: TRAF7 was set to GREEN Added comment: Over 50 affected individuals reported. Craniofacial abnormalities are common, including craniosynostosis in more than 3. Sources: Expert Review |
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| Craniosynostosis v0.177 | POR | Zornitza Stark Marked gene: POR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.177 | POR | Zornitza Stark Gene: por has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.177 | POR | Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.176 | POR | Zornitza Stark Publications for gene: POR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.175 | POR | Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.174 | POR | Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26969897, 26670660, 18259105; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.145 | ZEB2 |
Bryony Thompson gene: ZEB2 was added gene: ZEB2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ZEB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZEB2 were set to 25123255; 18076118 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome MIM#235730 Review for gene: ZEB2 was set to AMBER Added comment: Identified 3 unrelated cases with cranionsynostosis as a prominent feature of the condition. However, the last report was in 2014. Sources: Literature |
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| Craniosynostosis v0.144 | SCARF2 |
Bryony Thompson gene: SCARF2 was added gene: SCARF2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARF2 were set to 23808541 Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome MIM#600920 Review for gene: SCARF2 was set to RED Added comment: A single family reported with craniosynostosis as a feature of the condition. Sources: Literature |
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| Craniosynostosis v0.142 | LMX1B |
Bryony Thompson gene: LMX1B was added gene: LMX1B was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMX1B were set to 29852132; 20643727 Phenotypes for gene: LMX1B were set to Coronal craniosynostosis Review for gene: LMX1B was set to AMBER Added comment: A single case reported with p.L203F and craniosynostosis. Supporting mouse model. Sources: Literature |
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| Craniosynostosis v0.141 | IRX5 |
Bryony Thompson gene: IRX5 was added gene: IRX5 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRX5 were set to 22581230 Phenotypes for gene: IRX5 were set to Hamamy syndrome MIM#611174 Review for gene: IRX5 was set to RED Added comment: A single consanguineous family reported with craniosynostosis as a feature of the condition. Sources: Literature |
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| Craniosynostosis v0.139 | GPC3 |
Bryony Thompson gene: GPC3 was added gene: GPC3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC3 were set to 24115482; 28796105; 19372699 Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 MIM#312870 Review for gene: GPC3 was set to AMBER Added comment: At least 2 unrelated cases reported with craniosynostosis as a feature of the condition. Supporting in vitro functional assays. Sources: Literature |
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| Craniosynostosis v0.137 | FBN1 |
Bryony Thompson gene: FBN1 was added gene: FBN1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 8563763; 16596670; 24039054; 27884935 Phenotypes for gene: FBN1 were set to Shprintzen-Goldberg syndrome; Marfan syndrome MIM#154700 Review for gene: FBN1 was set to GREEN Added comment: At least 5 unrelated cases have been reported, usually de novo with craniosynostosis (coronoal and sagittal) as a feature of the condition. Sources: Literature |
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| Craniosynostosis v0.136 | ADAMTSL4 |
Bryony Thompson gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22871183; 20702823 Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae MIM#225200 Review for gene: ADAMTSL4 was set to RED Added comment: Two cases with craniosynostosis and the same 20 bp deletion have been repeated, but cases with the same variant in the same family have been reported with ectopia lentis only. Sources: Literature |
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| Craniosynostosis v0.132 | PJA1 |
Zornitza Stark gene: PJA1 was added gene: PJA1 was added to Craniosynostosis. Sources: Literature founder tags were added to gene: PJA1. Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly Review for gene: PJA1 was set to AMBER Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. Sources: Literature |
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| 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 v0.118 | TFAP2B |
Zornitza Stark gene: TFAP2B was added gene: TFAP2B was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2B were set to 31292255 Phenotypes for gene: TFAP2B were set to Syndromic craniosynostosis Review for gene: TFAP2B was set to GREEN Added comment: Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant). Sources: Expert list |
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| Craniosynostosis v0.109 | PHEX |
Zornitza Stark gene: PHEX was added gene: PHEX was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: PHEX was set to Other Publications for gene: PHEX were set to 19242361; 17551721 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Review for gene: PHEX was set to GREEN Added comment: Craniosynostosis reported in around ~40% of affected individuals. Sources: Expert list |
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| Craniosynostosis v0.105 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 29530693; 12244552 Phenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM# 118450 Review for gene: JAG1 was set to AMBER Added comment: Craniosynostosis is rarely described in Alagille syndrome, functional data to support role of JAG1 in suture development. Sources: Expert list |
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| Craniosynostosis v0.99 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: IDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDS were set to 15314824 Phenotypes for gene: IDS were set to Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 Review for gene: IDS was set to GREEN Added comment: Craniosynostosis of at least one suture reported as present in 77% of 47 MPS individuals (types I,II,VI, VII). >3 with IDUA, IDS, ARSB variants. Sources: Expert list |
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| Craniosynostosis v0.80 | SPECC1L |
Bryony Thompson gene: SPECC1L was added gene: SPECC1L was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPECC1L were set to 26111080; 30472488 Phenotypes for gene: SPECC1L were set to Hypertelorism, Teebi type MIM#145420 Review for gene: SPECC1L was set to AMBER Added comment: Three unrelated cases reported with craniosynostosis as a feature of the condition. Sources: Expert list |
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| Craniosynostosis v0.78 | IFT122 |
Bryony Thompson gene: IFT122 was added gene: IFT122 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 26792575; 28370949; 29037998 Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 MIM#218330 Review for gene: IFT122 was set to GREEN Added comment: Craniosynostosis has been reported as a prominent feature of the condition in greater than 10 cases. Sources: Expert list |
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| Craniosynostosis v0.76 | GLI3 |
Bryony Thompson gene: GLI3 was added gene: GLI3 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI3 were set to 20583172; 20570969; 21326280 Phenotypes for gene: GLI3 were set to Metopic craniosynostosis; Greig cephalopolysyndactyly syndrome MIM#175700 Review for gene: GLI3 was set to GREEN Added comment: Metopic or sagittal synostosis has been reported as a feature of Greig cephalopolysyndactyly syndrome in at least 7 unrelated cases, and there is a supporting mouse model with craniosynostosis. Sources: Expert list |
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| Craniosynostosis v0.42 | KAT6A |
Tiong Tan gene: KAT6A was added gene: KAT6A was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 30245513; 25728777 Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome Penetrance for gene: KAT6A were set to Complete Review for gene: KAT6A was set to GREEN Added comment: Low frequency association of craniosynostosis in Arboleda-Tham syndrome. Six individuals reported in two publications. Sources: Literature |
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| Craniosynostosis v0.40 | FLNA |
Tiong Tan gene: FLNA was added gene: FLNA was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 25873011; 16835913; 21031081 Phenotypes for gene: FLNA were set to otopalatodigital spectrum Penetrance for gene: FLNA were set to Complete Mode of pathogenicity for gene: FLNA 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: FLNA was set to GREEN Added comment: LOF variants cause PVNH; GOF variants cause OPD spectrum. Craniosynostosis is a low frequency association with FLNA-related OPD spectrum. Six unrelated probands reported in three publications. Sources: Literature |
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| Craniosynostosis v0.20 | CHST3 |
Tiong Tan gene: CHST3 was added gene: CHST3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 24300290 Phenotypes for gene: CHST3 were set to 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Penetrance for gene: CHST3 were set to Complete Review for gene: CHST3 was set to AMBER Added comment: Single case report of craniosynostosis in single individual with SEDCJD 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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| Craniosynostosis v0.4 | ALX4 |
Bryony Thompson gene: ALX4 was added gene: ALX4 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALX4 were set to 19692347; 29215649; 22829454 Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597 Review for gene: ALX4 was set to GREEN Added comment: Craniosynostosis has been reported in 2 cases with monoallelic likely LoF variants and as a feature of a syndromic condition in 2 consanguineous families with homozygous LoF variants. 2 putative gain of function missense variants were identified in 2 probands with non-syndromic craniosynostosis, but were also identified in unaffected parents. Sources: Expert list |
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| Craniosynostosis v0.0 | POR |
Zornitza Stark gene: POR was added gene: POR was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POR was set to Unknown |
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