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Craniosynostosis v1.68 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Craniosynostosis v1.68 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Craniosynostosis v1.68 MAP3K20 Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence)
Craniosynostosis v1.68 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Craniosynostosis v1.67 MAP3K20 Zornitza Stark gene: MAP3K20 was added
gene: MAP3K20 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K20 were set to 38451290
Phenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related
Review for gene: MAP3K20 was set to GREEN
Added comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20.
Sources: Literature
Craniosynostosis v1.66 CDC45 Zornitza Stark Publications for gene: CDC45 were set to 27374770
Craniosynostosis v1.65 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Craniosynostosis v1.65 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Craniosynostosis v1.65 MAN2B1 Zornitza Stark Classified gene: MAN2B1 as Green List (high evidence)
Craniosynostosis v1.65 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Craniosynostosis v1.64 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Craniosynostosis v1.64 IL6ST Zornitza Stark Gene: il6st has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.64 IL6ST Zornitza Stark Classified gene: IL6ST as Amber List (moderate evidence)
Craniosynostosis v1.64 IL6ST Zornitza Stark Gene: il6st has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.63 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Craniosynostosis v1.63 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Craniosynostosis v1.63 FBXO11 Zornitza Stark Classified gene: FBXO11 as Green List (high evidence)
Craniosynostosis v1.63 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Craniosynostosis v1.62 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Craniosynostosis v1.62 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Craniosynostosis v1.62 KAT6B Zornitza Stark Classified gene: KAT6B as Green List (high evidence)
Craniosynostosis v1.62 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Craniosynostosis v1.61 CDC45 Yetong Chen reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 33639314, 27884935; Phenotypes: Meier-Gorlin syndrome 7, MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
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
Craniosynostosis v1.61 KAT6A Yetong Chen Deleted their review
Craniosynostosis v1.61 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Craniosynostosis v1.61 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Craniosynostosis v1.61 CDK13 Zornitza Stark Classified gene: CDK13 as Green List (high evidence)
Craniosynostosis v1.61 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Craniosynostosis v1.60 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Craniosynostosis v1.60 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Craniosynostosis v1.60 ARID1B Zornitza Stark Classified gene: ARID1B as Green List (high evidence)
Craniosynostosis v1.60 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Craniosynostosis v1.59 NFIX Zornitza Stark Marked gene: NFIX as ready
Craniosynostosis v1.59 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Craniosynostosis v1.59 NFIX Zornitza Stark Classified gene: NFIX as Green List (high evidence)
Craniosynostosis v1.59 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Craniosynostosis v1.58 KAT6A Zornitza Stark Publications for gene: KAT6A were set to 30245513; 25728777
Craniosynostosis v1.57 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Craniosynostosis v1.57 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Craniosynostosis v1.57 AHDC1 Zornitza Stark Classified gene: AHDC1 as Green List (high evidence)
Craniosynostosis v1.57 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
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
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
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
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
Craniosynostosis v1.56 KAT6A Yetong Chen reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33288889, 28696035; Phenotypes: SBBYSS syndrome, MIM# 603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Craniosynostosis v1.56 RARA Krithika Murali reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37086723; Phenotypes: Craniosynostosis - MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.56 RARA Krithika Murali Deleted their review
Craniosynostosis v1.56 RARA Krithika Murali reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.56 RARA Zornitza Stark Marked gene: RARA as ready
Craniosynostosis v1.56 RARA Zornitza Stark Gene: rara has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.56 RARA Zornitza Stark Classified gene: RARA as Amber List (moderate evidence)
Craniosynostosis v1.56 RARA Zornitza Stark Gene: rara has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.55 RARA Krithika Murali Deleted their review
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
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
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
Craniosynostosis v1.55 POLR1A Elena Savva Marked gene: POLR1A as ready
Craniosynostosis v1.55 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.55 POLR1A Elena Savva Classified gene: POLR1A as Amber List (moderate evidence)
Craniosynostosis v1.55 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.54 POLR1A Elena Savva gene: POLR1A was added
gene: POLR1A was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to PMID: 37075751
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462
Review for gene: POLR1A was set to AMBER
Added comment: PMID: 37075751 - craniosynostosis shown in 3/21 patients
Sources: Literature
Craniosynostosis v1.53 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Craniosynostosis v1.53 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Craniosynostosis v1.53 BCL11B Zornitza Stark Phenotypes for gene: BCL11B were changed from Craniosynostosis to Craniosynostosis, MONDO:0015469, BCL11B-related
Craniosynostosis v1.52 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Craniosynostosis v1.52 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Craniosynostosis v1.51 NFIA Zornitza Stark Marked gene: NFIA as ready
Craniosynostosis v1.51 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Craniosynostosis v1.51 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from Craniosynostosis to Craniosynostosis MONDO:0015469, NFIA-related
Craniosynostosis v1.50 NFIA Zornitza Stark Classified gene: NFIA as Green List (high evidence)
Craniosynostosis v1.50 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Craniosynostosis v1.49 NFIA Zornitza Stark reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis MONDO:0015469, NFIA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.49 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Craniosynostosis v1.49 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Craniosynostosis v1.49 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from Craniosynostosis to Craniosynostosis, MONDO:0015469, PRRX1-related
Craniosynostosis v1.48 PRRX1 Zornitza Stark Classified gene: PRRX1 as Green List (high evidence)
Craniosynostosis v1.48 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
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
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
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
Craniosynostosis v1.47 SPRY1 Elena Savva Phenotypes for gene: SPRY1 were changed from Craniosynostosis, SPRY1-related, MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469
Craniosynostosis v1.47 SPRY1 Elena Savva Classified gene: SPRY1 as Amber List (moderate evidence)
Craniosynostosis v1.47 SPRY1 Elena Savva Gene: spry1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.47 SPRY1 Elena Savva Phenotypes for gene: SPRY1 were changed from raniosynostosis MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469
Craniosynostosis v1.47 SPRY1 Elena Savva Classified gene: SPRY1 as Amber List (moderate evidence)
Craniosynostosis v1.47 SPRY1 Elena Savva Gene: spry1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.46 SPRY1 Elena Savva Marked gene: SPRY1 as ready
Craniosynostosis v1.46 SPRY1 Elena Savva Gene: spry1 has been classified as Red List (Low Evidence).
Craniosynostosis v1.46 SPRY1 Elena Savva gene: SPRY1 was added
gene: SPRY1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRY1 were set to 36543535
Phenotypes for gene: SPRY1 were set to raniosynostosis MONDO:0015469
Review for gene: SPRY1 was set to AMBER
Added comment: no homozygous PTCs in gnomAD

PMID: 36543535:
- Hom null mutant mice display kidney/urinary tract abnormalities and altered size of the skull, het mice were normal
- 1 hom proband (3' NMD escape PTC) with sagittal craniosynostosis
- Functional studies proved NMD escape, but loss of full length protein
Sources: Literature
Craniosynostosis v1.45 ADAMTSL4 Zornitza Stark Phenotypes for gene: ADAMTSL4 were changed from Ectopia lentis et pupillae MIM#225200 to Ectopia lentis et pupillae MIM#225200; Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related
Craniosynostosis v1.44 ADAMTSL4 Zornitza Stark Publications for gene: ADAMTSL4 were set to 22871183; 20702823
Craniosynostosis v1.43 ADAMTSL4 Zornitza Stark Classified gene: ADAMTSL4 as Green List (high evidence)
Craniosynostosis v1.43 ADAMTSL4 Zornitza Stark Gene: adamtsl4 has been classified as Green List (High Evidence).
Craniosynostosis v1.42 ADAMTSL4 Michelle Torres reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35378950, 28642162; Phenotypes: Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.42 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Craniosynostosis v1.41 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Craniosynostosis v1.41 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Craniosynostosis v1.41 Zornitza Stark List of related panels changed from to Craniosynostosis HP:0001363
Craniosynostosis v1.40 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Craniosynostosis v1.40 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Craniosynostosis v1.40 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.39 WDR19 Chirag Patel gene: WDR19 was added
gene: WDR19 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to PMID: 24027799
Phenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4 , OMIM # 614378
Review for gene: WDR19 was set to GREEN
Added comment: Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Mutations in WDR19 account for ~7% cases,
Sources: Literature
Craniosynostosis v1.38 EFNA4 Zornitza Stark Phenotypes for gene: EFNA4 were changed from to Coronal and metopic craniosynostosis
Craniosynostosis v1.37 EFNA4 Zornitza Stark Publications for gene: EFNA4 were set to
Craniosynostosis v1.36 EFNA4 Zornitza Stark Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.35 IRX5 Zornitza Stark Publications for gene: IRX5 were set to 22581230
Craniosynostosis v1.34 IRX5 Zornitza Stark Classified gene: IRX5 as Green List (high evidence)
Craniosynostosis v1.34 IRX5 Zornitza Stark Gene: irx5 has been classified as Green List (High Evidence).
Craniosynostosis v1.33 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922, 34899143; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.33 TSHR Zornitza Stark Marked gene: TSHR as ready
Craniosynostosis v1.33 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Craniosynostosis v1.33 TSHR Zornitza Stark Classified gene: TSHR as Green List (high evidence)
Craniosynostosis v1.33 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
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
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
Craniosynostosis v1.32 CHD7 Seb Lunke Marked gene: CHD7 as ready
Craniosynostosis v1.32 CHD7 Seb Lunke Gene: chd7 has been classified as Green List (High Evidence).
Craniosynostosis v1.32 CHD7 Seb Lunke Phenotypes for gene: CHD7 were changed from CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures to CHARGE syndrome, MIM#214800; bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated
Craniosynostosis v1.31 CHD7 Seb Lunke Classified gene: CHD7 as Green List (high evidence)
Craniosynostosis v1.31 CHD7 Seb Lunke Gene: chd7 has been classified as Green List (High Evidence).
Craniosynostosis v1.30 CHD7 Ee Ming Wong changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Craniosynostosis v1.30 CHD7 Ee Ming Wong changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Craniosynostosis v1.30 CHD7 Ee Ming Wong gene: CHD7 was added
gene: CHD7 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to PMID: 33844462; 30498854; 33288889
Phenotypes for gene: CHD7 were set to CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures
Penetrance for gene: CHD7 were set to Complete
Review for gene: CHD7 was set to GREEN
gene: CHD7 was marked as current diagnostic
Added comment: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Craniosynostosis v1.30 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from 201000 CARPENTER SYNDROME to Carpenter syndrome (MIM#201000)
Craniosynostosis v1.29 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Craniosynostosis v1.28 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Craniosynostosis v1.28 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Craniosynostosis v1.28 GNB1 Zornitza Stark Classified gene: GNB1 as Green List (high evidence)
Craniosynostosis v1.28 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
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
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 v1.25 GINS2 Zornitza Stark Marked gene: GINS2 as ready
Craniosynostosis v1.25 GINS2 Zornitza Stark Gene: gins2 has been classified as Red List (Low Evidence).
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
Craniosynostosis v1.24 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Craniosynostosis v1.23 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1 MIM#218330 to Cranioectodermal dysplasia 1 MIM#218330; MONDO:0021093
Craniosynostosis v1.22 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.22 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.21 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.21 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson Marked gene: RNU12 as ready
Craniosynostosis v1.20 RNU12 Bryony Thompson Gene: rnu12 has been classified as Red List (Low Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson gene: RNU12 was added
gene: RNU12 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Craniosynostosis is a major feature of the condition.
Sources: Literature
Craniosynostosis v1.19 LTBP1 Sue White Marked gene: LTBP1 as ready
Craniosynostosis v1.19 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Craniosynostosis v1.19 LTBP1 Sue White Classified gene: LTBP1 as Green List (high evidence)
Craniosynostosis v1.19 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
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
Craniosynostosis v1.18 FAM20C Zornitza Stark Classified gene: FAM20C as Green List (high evidence)
Craniosynostosis v1.18 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Craniosynostosis v1.17 FAM20C Zornitza Stark changed review comment from: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly.
Sources: Expert list; to: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.
Sources: Expert list
Craniosynostosis v1.17 FAM20C Zornitza Stark edited their review of gene: FAM20C: Changed rating: GREEN; Changed phenotypes: Raine syndrome, MIM# 259775
Craniosynostosis v1.17 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Craniosynostosis v1.16 FGF9 Zornitza Stark Classified gene: FGF9 as Green List (high evidence)
Craniosynostosis v1.16 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Craniosynostosis v1.15 FGF9 Chris Richmond reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 (612961); Mode of inheritance: None
Craniosynostosis v1.15 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Craniosynostosis v1.15 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Craniosynostosis v1.15 SIX1 Zornitza Stark Classified gene: SIX1 as Green List (high evidence)
Craniosynostosis v1.15 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Craniosynostosis v1.14 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIX1 were set to 33436522
Phenotypes for gene: SIX1 were set to Sagittal synostosis; Multi-suture synostosis
Review for gene: SIX1 was set to GREEN
Added comment: Calpena et al 2021 (PMID:33436522) identified 7 families in which the proband had craniosynostosis (affecting at least the sagittal suture in all cases) and a heterozygous SIX1 variant (4 nonsense + 3 missense in highly conserved residues of SIX domain or homeodomain). SIX1 mutations (mostly missense) were previously described in branchio-otic syndrome (BOS). Patients and carriers in the extended family variably had features of BOS (including branchial cysts, ear tags or pits, and hearing loss), but there were also several non-penetrant heterozygous individuals, indicating variation in expressivity. SIX1 analysis is therefore particularly indicated in individuals with either (1) additional BOS features or (2) sagittal+bilambdoid synostosis.
Sources: Literature
Craniosynostosis v1.13 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Craniosynostosis v1.13 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
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
Craniosynostosis v1.11 BMP7 Zornitza Stark Marked gene: BMP7 as ready
Craniosynostosis v1.11 BMP7 Zornitza Stark Gene: bmp7 has been classified as Red List (Low Evidence).
Craniosynostosis v1.11 BMP7 Zornitza Stark gene: BMP7 was added
gene: BMP7 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 32266521
Phenotypes for gene: BMP7 were set to Non-syndromic metopic craniosynostosis
Mode of pathogenicity for gene: BMP7 was set to Other
Review for gene: BMP7 was set to RED
Added comment: rs6127972 identified as a susceptibility SNP for non-syndromic metopic craniosynostosis.
Sources: Literature
Craniosynostosis v1.10 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from WEISS-KRUSZKA SYNDROME to Weiss-Kruszka syndrome, MIM#618619
Craniosynostosis v1.9 ZIC1 Zornitza Stark edited their review of gene: ZIC1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.9 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia 2, MIM# 613610
Craniosynostosis v1.8 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, MIM# 613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v1.7 SMAD6 Zornitza Stark Phenotypes for gene: SMAD6 were changed from non-syndromic craniosynostosis to {Craniosynostosis 7, susceptibility to}, MIM# 617439
Craniosynostosis v1.6 SMAD6 Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Craniosynostosis 7, susceptibility to}, MIM# 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.6 SKI Zornitza Stark Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM# 182212
Craniosynostosis v1.5 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.5 MEGF8 Zornitza Stark Phenotypes for gene: MEGF8 were changed from Carpenter syndrome to Carpenter syndrome, MIM#614976
Craniosynostosis v1.4 MEGF8 Zornitza Stark reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.4 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome to 3MC syndrome, MIM#257920
Craniosynostosis v1.3 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome, MIM#257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.3 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from Arboleda-Tham syndrome to Arboleda-Tham syndrome, MIM#616268
Craniosynostosis v1.2 KAT6A Zornitza Stark reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arboleda-Tham syndrome, MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.2 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome to Au-Kline syndrome, MIM#616580
Craniosynostosis v1.1 HNRNPK Zornitza Stark reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome, MIM#616580; Mode of inheritance: None
Craniosynostosis v1.1 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from to Craniosynostosis
Craniosynostosis v1.0 FGF10 Zornitza Stark edited their review of gene: FGF10: Changed phenotypes: Craniosynostosis
Craniosynostosis v1.0 Zornitza Stark promoted panel to version 1.0
Craniosynostosis v0.185 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Craniosynostosis v0.185 GPC3 Zornitza Stark Gene: gpc3 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.185 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Craniosynostosis v0.185 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Craniosynostosis v0.185 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400
Craniosynostosis v0.184 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Craniosynostosis v0.183 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.182 TWIST1 Zornitza Stark Tag SV/CNV tag was added to gene: TWIST1.
Tag 5'UTR tag was added to gene: TWIST1.
Craniosynostosis v0.182 TWIST1 Zornitza Stark edited their review of gene: TWIST1: Changed publications: 17343269, 9585583, 12116251, 31299755, 30040876
Craniosynostosis v0.182 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.182 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Craniosynostosis v0.182 RUNX2 Zornitza Stark Gene: runx2 has been classified as Green List (High Evidence).
Craniosynostosis v0.182 RUNX2 Zornitza Stark Phenotypes for gene: RUNX2 were changed from to Craniosynostosis
Craniosynostosis v0.181 RUNX2 Zornitza Stark Publications for gene: RUNX2 were set to
Craniosynostosis v0.180 RUNX2 Zornitza Stark Tag SV/CNV tag was added to gene: RUNX2.
Craniosynostosis v0.180 RUNX2 Zornitza Stark Mode of inheritance for gene: RUNX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.179 RUNX2 Zornitza Stark reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32360898, 23348268, 23307468; Phenotypes: Craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.179 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Craniosynostosis v0.179 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Craniosynostosis v0.179 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM# 218600
Craniosynostosis v0.178 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.177 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM# 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v0.174 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Craniosynostosis v0.174 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Craniosynostosis v0.174 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2, MIM# 604757
Craniosynostosis v0.173 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Craniosynostosis v0.172 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.171 MSX2 Zornitza Stark reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795; Phenotypes: Craniosynostosis 2, MIM# 604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.171 IL11RA Zornitza Stark Marked gene: IL11RA as ready
Craniosynostosis v0.171 IL11RA Zornitza Stark Gene: il11ra has been classified as Green List (High Evidence).
Craniosynostosis v0.171 IL11RA Zornitza Stark Phenotypes for gene: IL11RA were changed from to Craniosynostosis and dental anomalies, MIM# 614188
Craniosynostosis v0.170 IL11RA Zornitza Stark Publications for gene: IL11RA were set to
Craniosynostosis v0.169 IL11RA Zornitza Stark Mode of inheritance for gene: IL11RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.168 IL11RA Zornitza Stark reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21741611, 32277509, 30811827, 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.168 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Craniosynostosis v0.168 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Craniosynostosis v0.168 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to Crouzon syndrome with acanthosis nigricans, MIM# 612247; Muenke syndrome, MIM# 602849
Craniosynostosis v0.167 FGFR3 Zornitza Stark Mode of pathogenicity for gene: FGFR3 was changed from to Other
Craniosynostosis v0.166 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.165 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Crouzon syndrome with acanthosis nigricans, MIM# 612247, Muenke syndrome, MIM# 602849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.165 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Craniosynostosis v0.165 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.165 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from to Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400
Craniosynostosis v0.164 FGFR2 Zornitza Stark Mode of pathogenicity for gene: FGFR2 was changed from to Other
Craniosynostosis v0.163 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.162 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Apert syndrome, MIM# 101200, Crouzon syndrome, MIM# 123500, Pfeiffer syndrome, MIM# 101600, Saethre-Chotzen syndrome, MIM# 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.162 ZIC1 Zornitza Stark Marked gene: ZIC1 as ready
Craniosynostosis v0.162 ZIC1 Zornitza Stark Gene: zic1 has been classified as Green List (High Evidence).
Craniosynostosis v0.162 ZIC1 Zornitza Stark Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736; Craniosynostosis 6, MIM# 616602
Craniosynostosis v0.161 ZIC1 Zornitza Stark Publications for gene: ZIC1 were set to
Craniosynostosis v0.160 ZIC1 Zornitza Stark Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.159 ZIC1 Zornitza Stark reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26340333, 32975022, 27884935; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736, Craniosynostosis 6, MIM# 616602; Mode of inheritance: None
Craniosynostosis v0.159 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Craniosynostosis v0.159 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Craniosynostosis v0.159 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Pfeiffer syndrome, MIM# 101600; Jackson-Weiss syndrome 123150
Craniosynostosis v0.158 FGFR1 Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other
Craniosynostosis v0.157 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.156 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Pfeiffer syndrome, MIM# 101600, Jackson-Weiss syndrome 123150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.156 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Craniosynostosis v0.156 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Craniosynostosis v0.156 ERF Zornitza Stark Marked gene: ERF as ready
Craniosynostosis v0.156 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Craniosynostosis v0.156 ERF Zornitza Stark Phenotypes for gene: ERF were changed from to Craniosynostosis 4, MIM# 600775
Craniosynostosis v0.155 ERF Zornitza Stark Publications for gene: ERF were set to
Craniosynostosis v0.154 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.153 ERF Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.153 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Craniosynostosis v0.153 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Craniosynostosis v0.153 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110
Craniosynostosis v0.152 EFNB1 Zornitza Stark Publications for gene: EFNB1 were set to
Craniosynostosis v0.151 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 was changed from Unknown to Other
Craniosynostosis v0.150 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590,; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other
Craniosynostosis v0.150 TCF12 Zornitza Stark Marked gene: TCF12 as ready
Craniosynostosis v0.150 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Craniosynostosis v0.150 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from to Craniosynostosis 3, MIM# 615314
Craniosynostosis v0.149 TCF12 Zornitza Stark Publications for gene: TCF12 were set to
Craniosynostosis v0.148 TCF12 Zornitza Stark Mode of inheritance for gene: TCF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.147 TCF12 Zornitza Stark reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.147 ZEB2 Bryony Thompson Marked gene: ZEB2 as ready
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.147 ZEB2 Bryony Thompson Classified gene: ZEB2 as Amber List (moderate evidence)
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.146 ZEB2 Bryony Thompson Mode of inheritance for gene: ZEB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.145 ZEB2 Bryony Thompson edited their review of gene: ZEB2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Craniosynostosis v0.144 SCARF2 Bryony Thompson Marked gene: SCARF2 as ready
Craniosynostosis v0.144 SCARF2 Bryony Thompson Gene: scarf2 has been classified as Red List (Low Evidence).
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
Craniosynostosis v0.143 LMX1B Bryony Thompson Marked gene: LMX1B as ready
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.143 LMX1B Bryony Thompson Classified gene: LMX1B as Amber List (moderate evidence)
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.141 IRX5 Bryony Thompson Marked gene: IRX5 as ready
Craniosynostosis v0.141 IRX5 Bryony Thompson Gene: irx5 has been classified as Red List (Low Evidence).
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
Craniosynostosis v0.140 GPC3 Bryony Thompson Classified gene: GPC3 as Amber List (moderate evidence)
Craniosynostosis v0.140 GPC3 Bryony Thompson Gene: gpc3 has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.138 FBN1 Bryony Thompson Classified gene: FBN1 as Green List (high evidence)
Craniosynostosis v0.138 FBN1 Bryony Thompson Gene: fbn1 has been classified as Green List (High Evidence).
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
Craniosynostosis v0.136 ADAMTSL4 Zornitza Stark Marked gene: ADAMTSL4 as ready
Craniosynostosis v0.136 ADAMTSL4 Zornitza Stark Gene: adamtsl4 has been classified as Red List (Low Evidence).
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
Craniosynostosis v0.135 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Craniosynostosis v0.135 P4HB Zornitza Stark Publications for gene: P4HB were set to 25683117; 29384951
Craniosynostosis v0.134 P4HB Zornitza Stark edited their review of gene: P4HB: Changed publications: 30063094, 29263160, 25683117, 29384951; Changed phenotypes: Cole-Carpenter syndrome 1, MIM# 112240
Craniosynostosis v0.134 P4HB Zornitza Stark changed review comment from: Craniosynostosis is a feature of this syndrome.
Sources: Expert list; to: Craniosynostosis is a feature of this syndrome. Note recurrent de novo missense variant, p.Tyr393Cys.
Sources: Expert list
Craniosynostosis v0.134 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Craniosynostosis v0.133 SOX6 Zornitza Stark reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.133 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.133 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.130 ACTB Zornitza Stark Marked gene: ACTB as ready
Craniosynostosis v0.130 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Craniosynostosis v0.130 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310
Craniosynostosis v0.129 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.128 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Craniosynostosis v0.128 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Craniosynostosis v0.128 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM# 614583
Craniosynostosis v0.127 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.126 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Craniosynostosis v0.126 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Craniosynostosis v0.126 SKI Zornitza Stark Marked gene: SKI as ready
Craniosynostosis v0.126 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Craniosynostosis v0.126 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Craniosynostosis v0.126 TLK2 Zornitza Stark Gene: tlk2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.126 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM#618050
Craniosynostosis v0.125 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Craniosynostosis v0.124 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.123 TLK2 Zornitza Stark Classified gene: TLK2 as Amber List (moderate evidence)
Craniosynostosis v0.123 TLK2 Zornitza Stark Gene: tlk2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.121 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Craniosynostosis v0.121 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.121 TMCO1 Zornitza Stark Classified gene: TMCO1 as Amber List (moderate evidence)
Craniosynostosis v0.121 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.119 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Craniosynostosis v0.119 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Craniosynostosis v0.119 TFAP2B Zornitza Stark Classified gene: TFAP2B as Green List (high evidence)
Craniosynostosis v0.119 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
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
Craniosynostosis v0.117 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Craniosynostosis v0.117 STAT3 Zornitza Stark Gene: stat3 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.117 STAT3 Zornitza Stark Classified gene: STAT3 as Amber List (moderate evidence)
Craniosynostosis v0.117 STAT3 Zornitza Stark Gene: stat3 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.116 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 20159255
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome, MIM# 147060
Review for gene: STAT3 was set to AMBER
Added comment: Craniosynostosis is a rarely described feature of this condition.
Sources: Expert list
Craniosynostosis v0.115 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from Hypertelorism, Teebi type MIM#145420 to Hypertelorism, Teebi type MIM#145420; Opitz GBBB syndrome, type II, MIM#145410
Craniosynostosis v0.114 SPECC1L Zornitza Stark Publications for gene: SPECC1L were set to 26111080; 30472488
Craniosynostosis v0.113 SPECC1L Zornitza Stark Classified gene: SPECC1L as Green List (high evidence)
Craniosynostosis v0.113 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Craniosynostosis v0.112 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: None
Craniosynostosis v0.112 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 3, MIM# 613795
Craniosynostosis v0.111 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to 20301312
Craniosynostosis v0.110 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.110 PHEX Zornitza Stark Marked gene: PHEX as ready
Craniosynostosis v0.110 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Craniosynostosis v0.110 PHEX Zornitza Stark Classified gene: PHEX as Green List (high evidence)
Craniosynostosis v0.110 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
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
Craniosynostosis v0.108 P4HB Zornitza Stark Marked gene: P4HB as ready
Craniosynostosis v0.108 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Craniosynostosis v0.108 P4HB Zornitza Stark Classified gene: P4HB as Green List (high evidence)
Craniosynostosis v0.108 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Craniosynostosis v0.107 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 29384951
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM# 112240
Review for gene: P4HB was set to GREEN
Added comment: Craniosynostosis is a feature of this syndrome.
Sources: Expert list
Craniosynostosis v0.106 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Craniosynostosis v0.106 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.106 JAG1 Zornitza Stark Classified gene: JAG1 as Amber List (moderate evidence)
Craniosynostosis v0.106 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.104 IHH Zornitza Stark Marked gene: IHH as ready
Craniosynostosis v0.104 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Craniosynostosis v0.104 IHH Zornitza Stark Classified gene: IHH as Green List (high evidence)
Craniosynostosis v0.104 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Craniosynostosis v0.103 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Craniosynostosis. Sources: Expert list
SV/CNV, 5'UTR tags were added to gene: IHH.
Mode of inheritance for gene: IHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IHH were set to Craniosynostosis, Philadelphia type
Mode of pathogenicity for gene: IHH 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: IHH was set to GREEN
Added comment: Green for promoter region 40kb upstream of IHH only. Duplications of 2q35-q36.3 encompassing region 40kb upstream of IHH (within intron of NHEJ1 gene) cause craniosynostosis. Please note SNVs in this gene cause a different phenotype.
Sources: Expert list
Craniosynostosis v0.102 IDUA Zornitza Stark Marked gene: IDUA as ready
Craniosynostosis v0.102 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Craniosynostosis v0.102 IDUA Zornitza Stark Classified gene: IDUA as Green List (high evidence)
Craniosynostosis v0.102 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Craniosynostosis v0.101 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 23917744
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016
Review for gene: IDUA was set to GREEN
Added comment: Craniosynostosis of at least one suture was present in 77% of 47 MPS individuals (types I,II,VI, VII). >3 with IDUA, IDS, ARSB variants.
Sources: Expert list
Craniosynostosis v0.100 IDS Zornitza Stark Marked gene: IDS as ready
Craniosynostosis v0.100 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Craniosynostosis v0.100 IDS Zornitza Stark Classified gene: IDS as Green List (high evidence)
Craniosynostosis v0.100 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
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
Craniosynostosis v0.98 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Craniosynostosis v0.98 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Craniosynostosis v0.98 GNPTAB Zornitza Stark Classified gene: GNPTAB as Green List (high evidence)
Craniosynostosis v0.98 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Craniosynostosis v0.97 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 24891900; 24060719
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta(I cell disease), MIM# 252500
Review for gene: GNPTAB was set to GREEN
Added comment: Recognised complication of I-cell disease.
Sources: Expert list
Craniosynostosis v0.96 GNAS Zornitza Stark Marked gene: GNAS as ready
Craniosynostosis v0.96 GNAS Zornitza Stark Gene: gnas has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.96 GNAS Zornitza Stark Classified gene: GNAS as Amber List (moderate evidence)
Craniosynostosis v0.96 GNAS Zornitza Stark Gene: gnas has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.95 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAS were set to 19530187; 26340332; 26267576
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism type 1a, MIM# 103580; Craniosynostosis
Review for gene: GNAS was set to AMBER
Added comment: Craniosynostosis is a rare complication of pseudohyoparathyroidism, a small number of published cases.
Sources: Expert list
Craniosynostosis v0.94 FGF10 Zornitza Stark edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.94 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.93 FGF10 Zornitza Stark reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29215649; Phenotypes: ; Mode of inheritance: None
Craniosynostosis v0.93 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Craniosynostosis v0.93 FREM1 Zornitza Stark Gene: frem1 has been classified as Red List (Low Evidence).
Craniosynostosis v0.93 FREM1 Zornitza Stark Phenotypes for gene: FREM1 were changed from to Trigonocephaly 2, MIM# 614485
Craniosynostosis v0.92 FREM1 Zornitza Stark Publications for gene: FREM1 were set to
Craniosynostosis v0.91 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.90 FREM1 Zornitza Stark Classified gene: FREM1 as Red List (low evidence)
Craniosynostosis v0.90 FREM1 Zornitza Stark Gene: frem1 has been classified as Red List (Low Evidence).
Craniosynostosis v0.89 FREM1 Zornitza Stark Tag disputed tag was added to gene: FREM1.
Craniosynostosis v0.89 FREM1 Zornitza Stark reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: None; Publications: 21931569,; Phenotypes: Trigonocephaly 2, MIM# 614485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.89 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Craniosynostosis v0.89 FAM20C Zornitza Stark Gene: fam20c has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.89 FAM20C Zornitza Stark Classified gene: FAM20C as Amber List (moderate evidence)
Craniosynostosis v0.89 FAM20C Zornitza Stark Gene: fam20c has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.88 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 19250384
Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775
Review for gene: FAM20C was set to AMBER
Added comment: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly.
Sources: Expert list
Craniosynostosis v0.87 CTSK Zornitza Stark Marked gene: CTSK as ready
Craniosynostosis v0.87 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Craniosynostosis v0.87 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Craniosynostosis v0.87 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Craniosynostosis v0.86 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 21968522; 23175007
Phenotypes for gene: CTSK were set to Pycnodysostosis, MIM#265800
Review for gene: CTSK was set to GREEN
Added comment: Craniosynostosis described in some individuals.
Sources: Expert list
Craniosynostosis v0.85 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Craniosynostosis v0.85 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Craniosynostosis v0.85 ASXL1 Zornitza Stark Classified gene: ASXL1 as Green List (high evidence)
Craniosynostosis v0.85 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Craniosynostosis v0.84 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome,MIM# 605039
Review for gene: ASXL1 was set to GREEN
Added comment: Trigonocephaly in 90%, metopic synostosis frequent.
Sources: Expert list
Craniosynostosis v0.83 ARSB Zornitza Stark Marked gene: ARSB as ready
Craniosynostosis v0.83 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Craniosynostosis v0.83 ARSB Zornitza Stark Classified gene: ARSB as Green List (high evidence)
Craniosynostosis v0.83 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Craniosynostosis v0.82 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis VI (MPS6, MIM# 253200
Review for gene: ARSB was set to GREEN
Added comment: Synostosis of at least one suture was present in 77% of 47 MPS cases (types I,II,VI, VII). >3 cases with IDUA, IDS, ARSB variants.
Sources: Expert list
Craniosynostosis v0.81 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM# 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.81 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.81 SPECC1L Bryony Thompson Marked gene: SPECC1L as ready
Craniosynostosis v0.81 SPECC1L Bryony Thompson Gene: specc1l has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.81 SPECC1L Bryony Thompson Classified gene: SPECC1L as Amber List (moderate evidence)
Craniosynostosis v0.81 SPECC1L Bryony Thompson Gene: specc1l has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.79 IFT122 Bryony Thompson Marked gene: IFT122 as ready
Craniosynostosis v0.79 IFT122 Bryony Thompson Gene: ift122 has been classified as Green List (High Evidence).
Craniosynostosis v0.79 IFT122 Bryony Thompson Classified gene: IFT122 as Green List (high evidence)
Craniosynostosis v0.79 IFT122 Bryony Thompson Gene: ift122 has been classified as Green List (High Evidence).
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
Craniosynostosis v0.77 GLI3 Bryony Thompson Marked gene: GLI3 as ready
Craniosynostosis v0.77 GLI3 Bryony Thompson Gene: gli3 has been classified as Green List (High Evidence).
Craniosynostosis v0.77 GLI3 Bryony Thompson Classified gene: GLI3 as Green List (high evidence)
Craniosynostosis v0.77 GLI3 Bryony Thompson Gene: gli3 has been classified as Green List (High Evidence).
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
Craniosynostosis v0.75 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Craniosynostosis v0.74 ZNF462 Tiong Tan Marked gene: ZNF462 as ready
Craniosynostosis v0.74 ZNF462 Tiong Tan Gene: znf462 has been classified as Green List (High Evidence).
Craniosynostosis v0.74 ZNF462 Tiong Tan Classified gene: ZNF462 as Green List (high evidence)
Craniosynostosis v0.74 ZNF462 Tiong Tan Gene: znf462 has been classified as Green List (High Evidence).
Craniosynostosis v0.73 ZNF462 Tiong Tan gene: ZNF462 was added
gene: ZNF462 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF462 were set to 28513610
Phenotypes for gene: ZNF462 were set to WEISS-KRUSZKA SYNDROME
Penetrance for gene: ZNF462 were set to Complete
Review for gene: ZNF462 was set to GREEN
Added comment: Craniosynostosis observed in 38% of affected individuals
Sources: Literature
Craniosynostosis v0.72 WDR35 Tiong Tan Marked gene: WDR35 as ready
Craniosynostosis v0.72 WDR35 Tiong Tan Gene: wdr35 has been classified as Green List (High Evidence).
Craniosynostosis v0.72 WDR35 Tiong Tan Classified gene: WDR35 as Green List (high evidence)
Craniosynostosis v0.72 WDR35 Tiong Tan Gene: wdr35 has been classified as Green List (High Evidence).
Craniosynostosis v0.71 WDR35 Tiong Tan gene: WDR35 was added
gene: WDR35 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR35 were set to 20817137; 24123776
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA
Penetrance for gene: WDR35 were set to Complete
Review for gene: WDR35 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of Sensenbrenner/Cranioectodermal dysplasia
Sources: Literature
Craniosynostosis v0.70 SMAD3 Tiong Tan Marked gene: SMAD3 as ready
Craniosynostosis v0.70 SMAD3 Tiong Tan Gene: smad3 has been classified as Green List (High Evidence).
Craniosynostosis v0.70 SMAD3 Tiong Tan Classified gene: SMAD3 as Green List (high evidence)
Craniosynostosis v0.70 SMAD3 Tiong Tan Gene: smad3 has been classified as Green List (High Evidence).
Craniosynostosis v0.69 SMAD3 Tiong Tan gene: SMAD3 was added
gene: SMAD3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD3 were set to 20301312
Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME
Penetrance for gene: SMAD3 were set to Complete
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Craniosynostosis v0.68 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.68 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.67 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.67 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.66 TGFBR2 Tiong Tan Marked gene: TGFBR2 as ready
Craniosynostosis v0.66 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Red List (Low Evidence).
Craniosynostosis v0.66 TGFBR2 Tiong Tan gene: TGFBR2 was added
gene: TGFBR2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 15731757
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
Penetrance for gene: TGFBR2 were set to Complete
Review for gene: TGFBR2 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Craniosynostosis v0.65 TGFBR1 Tiong Tan Marked gene: TGFBR1 as ready
Craniosynostosis v0.65 TGFBR1 Tiong Tan Gene: tgfbr1 has been classified as Green List (High Evidence).
Craniosynostosis v0.65 TGFBR1 Tiong Tan Classified gene: TGFBR1 as Green List (high evidence)
Craniosynostosis v0.65 TGFBR1 Tiong Tan Gene: tgfbr1 has been classified as Green List (High Evidence).
Craniosynostosis v0.64 TGFBR1 Tiong Tan gene: TGFBR1 was added
gene: TGFBR1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR1 were set to 15731757
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
Penetrance for gene: TGFBR1 were set to Complete
Review for gene: TGFBR1 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
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
Craniosynostosis v0.61 SMAD6 Tiong Tan Marked gene: SMAD6 as ready
Craniosynostosis v0.61 SMAD6 Tiong Tan Gene: smad6 has been classified as Green List (High Evidence).
Craniosynostosis v0.61 SMAD6 Tiong Tan Classified gene: SMAD6 as Green List (high evidence)
Craniosynostosis v0.61 SMAD6 Tiong Tan Gene: smad6 has been classified as Green List (High Evidence).
Craniosynostosis v0.60 SMAD6 Tiong Tan gene: SMAD6 was added
gene: SMAD6 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 32499606; 27606499
Phenotypes for gene: SMAD6 were set to non-syndromic craniosynostosis
Penetrance for gene: SMAD6 were set to Incomplete
Review for gene: SMAD6 was set to GREEN
Added comment: Penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function.
Sources: Literature
Craniosynostosis v0.59 SKI Tiong Tan Classified gene: SKI as Green List (high evidence)
Craniosynostosis v0.59 SKI Tiong Tan Gene: ski has been classified as Green List (High Evidence).
Craniosynostosis v0.58 SKI Tiong Tan gene: SKI was added
gene: SKI was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SKI were set to 23023332; 23103230; 24736733
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Penetrance for gene: SKI were set to Complete
Mode of pathogenicity for gene: SKI was set to Other
Review for gene: SKI was set to GREEN
Added comment: Mutational hotspot suggests a mechanism that is not LOF
Sources: Literature
Craniosynostosis v0.57 SHOC2 Tiong Tan Marked gene: SHOC2 as ready
Craniosynostosis v0.57 SHOC2 Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.57 SHOC2 Tiong Tan Classified gene: SHOC2 as Amber List (moderate evidence)
Craniosynostosis v0.57 SHOC2 Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.56 SHOC2 Tiong Tan gene: SHOC2 was added
gene: SHOC2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 28650561; 25123707
Phenotypes for gene: SHOC2 were set to Noonan syndrome with loose anagen hair
Penetrance for gene: SHOC2 were set to Complete
Mode of pathogenicity for gene: SHOC2 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: SHOC2 was set to AMBER
Added comment: Two unrelated individuals with SHOC2-related Noonan syndrome and craniosynostosis; other Noonan syndrome genotypes have higher incidence of craniosynostosis.
Sources: Literature
Craniosynostosis v0.55 MEGF8 Tiong Tan Marked gene: MEGF8 as ready
Craniosynostosis v0.55 MEGF8 Tiong Tan Gene: megf8 has been classified as Green List (High Evidence).
Craniosynostosis v0.55 MEGF8 Tiong Tan Classified gene: MEGF8 as Green List (high evidence)
Craniosynostosis v0.55 MEGF8 Tiong Tan Gene: megf8 has been classified as Green List (High Evidence).
Craniosynostosis v0.54 MEGF8 Tiong Tan gene: MEGF8 was added
gene: MEGF8 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF8 were set to 23063620
Phenotypes for gene: MEGF8 were set to Carpenter syndrome
Penetrance for gene: MEGF8 were set to Complete
Review for gene: MEGF8 was set to GREEN
Added comment: Craniosynostosis is a key feature of Carpenter syndrome - identified in 4/4 unrelated individuals with MEGF8 biallelic variants
Sources: Literature
Craniosynostosis v0.53 MASP1 Tiong Tan Classified gene: MASP1 as Green List (high evidence)
Craniosynostosis v0.53 MASP1 Tiong Tan Gene: masp1 has been classified as Green List (High Evidence).
Craniosynostosis v0.52 MASP1 Tiong Tan gene: MASP1 was added
gene: MASP1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MASP1 were set to 7677137; 21258343
Phenotypes for gene: MASP1 were set to 3MC syndrome
Penetrance for gene: MASP1 were set to Complete
Review for gene: MASP1 was set to GREEN
Added comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Craniosynostosis v0.51 PTPN11 Tiong Tan Marked gene: PTPN11 as ready
Craniosynostosis v0.51 PTPN11 Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence).
Craniosynostosis v0.51 PTPN11 Tiong Tan Classified gene: PTPN11 as Green List (high evidence)
Craniosynostosis v0.51 PTPN11 Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence).
Craniosynostosis v0.50 PTPN11 Tiong Tan gene: PTPN11 was added
gene: PTPN11 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 28650561
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Penetrance for gene: PTPN11 were set to Complete
Mode of pathogenicity for gene: PTPN11 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: PTPN11 was set to GREEN
Added comment: Three unrelated individuals with PTPN11-related Noonan syndrome and craniosynostosis
Sources: Literature
Craniosynostosis v0.49 BRAF Tiong Tan Marked gene: BRAF as ready
Craniosynostosis v0.49 BRAF Tiong Tan Gene: braf has been classified as Green List (High Evidence).
Craniosynostosis v0.49 BRAF Tiong Tan Classified gene: BRAF as Green List (high evidence)
Craniosynostosis v0.49 BRAF Tiong Tan Gene: braf has been classified as Green List (High Evidence).
Craniosynostosis v0.48 BRAF Tiong Tan gene: BRAF was added
gene: BRAF was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 28650561
Phenotypes for gene: BRAF were set to CFC
Penetrance for gene: BRAF were set to Complete
Mode of pathogenicity for gene: BRAF 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: BRAF was set to GREEN
Added comment: Four unrelated individuals with CFC and craniosynostosis
Sources: Literature
Craniosynostosis v0.47 KRAS Tiong Tan Marked gene: KRAS as ready
Craniosynostosis v0.47 KRAS Tiong Tan Gene: kras has been classified as Green List (High Evidence).
Craniosynostosis v0.47 KRAS Tiong Tan Classified gene: KRAS as Green List (high evidence)
Craniosynostosis v0.47 KRAS Tiong Tan Gene: kras has been classified as Green List (High Evidence).
Craniosynostosis v0.46 KRAS Tiong Tan gene: KRAS was added
gene: KRAS was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 26249544; 28650561
Phenotypes for gene: KRAS were set to Noonan syndrome
Penetrance for gene: KRAS were set to Complete
Mode of pathogenicity for gene: KRAS 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: KRAS was set to GREEN
Added comment: 10% of all individuals with KRAS-related Noonan syndrome have craniosynostosis
Sources: Literature
Craniosynostosis v0.45 KAT6A Tiong Tan Classified gene: KAT6A as Green List (high evidence)
Craniosynostosis v0.45 KAT6A Tiong Tan Gene: kat6a has been classified as Green List (High Evidence).
Craniosynostosis v0.44 KAT6A Tiong Tan Classified gene: KAT6A as Green List (high evidence)
Craniosynostosis v0.44 KAT6A Tiong Tan Gene: kat6a has been classified as Green List (High Evidence).
Craniosynostosis v0.43 KAT6A Tiong Tan Marked gene: KAT6A as ready
Craniosynostosis v0.43 KAT6A Tiong Tan Gene: kat6a has been classified as Red List (Low Evidence).
Craniosynostosis v0.43 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
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
Craniosynostosis v0.41 FLNA Tiong Tan Marked gene: FLNA as ready
Craniosynostosis v0.41 FLNA Tiong Tan Gene: flna has been classified as Green List (High Evidence).
Craniosynostosis v0.41 FLNA Tiong Tan Classified gene: FLNA as Green List (high evidence)
Craniosynostosis v0.41 FLNA Tiong Tan Gene: flna has been classified as Green List (High Evidence).
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
Craniosynostosis v0.39 FGF10 Tiong Tan Publications for gene: FGF10 were set to
Craniosynostosis v0.38 FGF10 Tiong Tan Marked gene: FGF10 as ready
Craniosynostosis v0.38 FGF10 Tiong Tan Gene: fgf10 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.38 FGF10 Tiong Tan Classified gene: FGF10 as Amber List (moderate evidence)
Craniosynostosis v0.38 FGF10 Tiong Tan Added comment: Comment on list classification: Two unrelated individuals in large craniosynostosis cohort with pathogenic variants in FGF10.
Craniosynostosis v0.38 FGF10 Tiong Tan Gene: fgf10 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.37 TLK2 Bryony Thompson reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57 MIM#618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Marked gene: SLC25A24 as ready
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome MIM#612289
Craniosynostosis v0.36 SLC25A24 Bryony Thompson Publications for gene: SLC25A24 were set to
Craniosynostosis v0.35 SLC25A24 Bryony Thompson Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.34 SLC25A24 Bryony Thompson reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100093; Phenotypes: Fontaine progeroid syndrome MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.34 RAB23 Tiong Tan Marked gene: RAB23 as ready
Craniosynostosis v0.34 RAB23 Tiong Tan Gene: rab23 has been classified as Green List (High Evidence).
Craniosynostosis v0.34 RAB23 Tiong Tan Classified gene: RAB23 as Green List (high evidence)
Craniosynostosis v0.34 RAB23 Tiong Tan Gene: rab23 has been classified as Green List (High Evidence).
Craniosynostosis v0.33 RAB23 Tiong Tan gene: RAB23 was added
gene: RAB23 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB23 were set to 17503333
Phenotypes for gene: RAB23 were set to 201000 CARPENTER SYNDROME
Penetrance for gene: RAB23 were set to Complete
Review for gene: RAB23 was set to GREEN
Added comment: Craniosynostosis is an established feature of Carpenter syndrome
Sources: Literature
Craniosynostosis v0.32 HNRNPK Tiong Tan Marked gene: HNRNPK as ready
Craniosynostosis v0.32 HNRNPK Tiong Tan Gene: hnrnpk has been classified as Green List (High Evidence).
Craniosynostosis v0.32 HNRNPK Tiong Tan Classified gene: HNRNPK as Green List (high evidence)
Craniosynostosis v0.32 HNRNPK Tiong Tan Added comment: Comment on list classification: Amazing reviewer
Craniosynostosis v0.32 HNRNPK Tiong Tan Gene: hnrnpk has been classified as Green List (High Evidence).
Craniosynostosis v0.31 HNRNPK Tiong Tan gene: HNRNPK was added
gene: HNRNPK was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 26173930; 26954065; 29904177
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: Multiple unrelated individuals with Au-Kline (approx 1/3 have craniosynostosis - sagittal, metric, lambdoid)
Sources: Literature
Craniosynostosis v0.30 ESCO2 Tiong Tan Marked gene: ESCO2 as ready
Craniosynostosis v0.30 ESCO2 Tiong Tan Gene: esco2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.30 ESCO2 Tiong Tan Classified gene: ESCO2 as Amber List (moderate evidence)
Craniosynostosis v0.30 ESCO2 Tiong Tan Gene: esco2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.29 ESCO2 Tiong Tan gene: ESCO2 was added
gene: ESCO2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 31192177
Phenotypes for gene: ESCO2 were set to 268300 ROBERTS SYNDROME
Penetrance for gene: ESCO2 were set to Complete
Review for gene: ESCO2 was set to AMBER
Added comment: Two unrelated individuals with Roberts syndrome and craniosynostosis
Sources: Literature
Craniosynostosis v0.28 EFNA4 Tiong Tan Marked gene: EFNA4 as ready
Craniosynostosis v0.28 EFNA4 Tiong Tan Gene: efna4 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.28 EFNA4 Tiong Tan Classified gene: EFNA4 as Amber List (moderate evidence)
Craniosynostosis v0.28 EFNA4 Tiong Tan Gene: efna4 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.27 EFNA4 Tiong Tan reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29168297, 29215649; Phenotypes: Coronal and metopic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.27 DPH1 Tiong Tan Marked gene: DPH1 as ready
Craniosynostosis v0.27 DPH1 Tiong Tan Gene: dph1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.27 DPH1 Tiong Tan Classified gene: DPH1 as Amber List (moderate evidence)
Craniosynostosis v0.27 DPH1 Tiong Tan Added comment: Comment on list classification: I agree!
Craniosynostosis v0.27 DPH1 Tiong Tan Gene: dph1 has been classified as Amber List (Moderate Evidence).
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
Craniosynostosis v0.25 CYP26B1 Tiong Tan Marked gene: CYP26B1 as ready
Craniosynostosis v0.25 CYP26B1 Tiong Tan Gene: cyp26b1 has been classified as Green List (High Evidence).
Craniosynostosis v0.25 CYP26B1 Tiong Tan Classified gene: CYP26B1 as Green List (high evidence)
Craniosynostosis v0.25 CYP26B1 Tiong Tan Gene: cyp26b1 has been classified as Green List (High Evidence).
Craniosynostosis v0.24 CYP26B1 Tiong Tan gene: CYP26B1 was added
gene: CYP26B1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to 27410456; 22019272
Phenotypes for gene: CYP26B1 were set to 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
Penetrance for gene: CYP26B1 were set to Complete
Review for gene: CYP26B1 was set to GREEN
Added comment: Three unrelated families in two publications, the first of which also demonstrated robust functional work in murine embryos, zebrafish and in vitro assays suggesting aberrant osteoblast-osteocyte transition.
Sources: Literature
Craniosynostosis v0.23 COLEC11 Tiong Tan Marked gene: COLEC11 as ready
Craniosynostosis v0.23 COLEC11 Tiong Tan Gene: colec11 has been classified as Green List (High Evidence).
Craniosynostosis v0.23 COLEC11 Tiong Tan Classified gene: COLEC11 as Green List (high evidence)
Craniosynostosis v0.23 COLEC11 Tiong Tan Gene: colec11 has been classified as Green List (High Evidence).
Craniosynostosis v0.22 COLEC11 Tiong Tan gene: COLEC11 was added
gene: COLEC11 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 21258343
Phenotypes for gene: COLEC11 were set to 265050 3MC SYNDROME 2
Penetrance for gene: COLEC11 were set to Complete
Review for gene: COLEC11 was set to GREEN
Added comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Craniosynostosis v0.21 CHST3 Tiong Tan edited their review of gene: CHST3: Changed rating: RED
Craniosynostosis v0.21 CHST3 Tiong Tan Classified gene: CHST3 as Red List (low evidence)
Craniosynostosis v0.21 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.20 CHST3 Tiong Tan Marked gene: CHST3 as ready
Craniosynostosis v0.20 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
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
Craniosynostosis v0.19 B3GAT3 Tiong Tan Classified gene: B3GAT3 as Green List (high evidence)
Craniosynostosis v0.19 B3GAT3 Tiong Tan Gene: b3gat3 has been classified as Green List (High Evidence).
Craniosynostosis v0.18 B3GAT3 Tiong Tan Marked gene: B3GAT3 as ready
Craniosynostosis v0.18 B3GAT3 Tiong Tan Gene: b3gat3 has been classified as Red List (Low Evidence).
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
Craniosynostosis v0.17 ALPL Tiong Tan Classified gene: ALPL as Green List (high evidence)
Craniosynostosis v0.17 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Craniosynostosis v0.17 ALPL Tiong Tan Gene: alpl has been classified as Green List (High Evidence).
Craniosynostosis v0.17 ALPL Tiong Tan Classified gene: ALPL as Red List (low evidence)
Craniosynostosis v0.17 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Craniosynostosis v0.17 ALPL Tiong Tan Gene: alpl has been classified as Red List (Low Evidence).
Craniosynostosis v0.16 ALPL Tiong Tan Classified gene: ALPL as Green List (high evidence)
Craniosynostosis v0.16 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia; can precede other features
Craniosynostosis v0.16 ALPL Tiong Tan Gene: alpl has been classified as Green List (High Evidence).
Craniosynostosis v0.15 ALPL Tiong Tan Marked gene: ALPL as ready
Craniosynostosis v0.15 ALPL Tiong Tan Gene: alpl has been classified as Red List (Low Evidence).
Craniosynostosis v0.15 ALPL Tiong Tan gene: ALPL was added
gene: ALPL was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 29405940; 26590809; 30979546; 31754721
Phenotypes for gene: ALPL were set to 241500 HYPOPHOSPHATASIA, INFANTILE
Penetrance for gene: ALPL were set to unknown
Review for gene: ALPL was set to GREEN
Added comment: Sources: Literature
Craniosynostosis v0.14 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Craniosynostosis v0.14 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Craniosynostosis v0.14 HUWE1 Bryony Thompson Marked gene: HUWE1 as ready
Craniosynostosis v0.14 HUWE1 Bryony Thompson Gene: huwe1 has been classified as Green List (High Evidence).
Craniosynostosis v0.14 HUWE1 Bryony Thompson Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type MIM#309590
Craniosynostosis v0.13 HUWE1 Bryony Thompson Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v0.12 HUWE1 Bryony Thompson reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v0.12 FGF9 Bryony Thompson Marked gene: FGF9 as ready
Craniosynostosis v0.12 FGF9 Bryony Thompson Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.12 FGF9 Bryony Thompson Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3 MIM#612961
Craniosynostosis v0.11 FGF9 Bryony Thompson Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.10 FGF9 Bryony Thompson Classified gene: FGF9 as Amber List (moderate evidence)
Craniosynostosis v0.10 FGF9 Bryony Thompson Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.9 FGF9 Bryony Thompson reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.9 CDC45 Bryony Thompson Marked gene: CDC45 as ready
Craniosynostosis v0.9 CDC45 Bryony Thompson Gene: cdc45 has been classified as Green List (High Evidence).
Craniosynostosis v0.9 CDC45 Bryony Thompson Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7 MIM#617063
Craniosynostosis v0.8 CDC45 Bryony Thompson Publications for gene: CDC45 were set to
Craniosynostosis v0.7 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.6 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.6 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.5 CDC45 Bryony Thompson edited their review of gene: CDC45: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.5 CDC45 Bryony Thompson reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374770; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: None
Craniosynostosis v0.5 ALX4 Bryony Thompson Classified gene: ALX4 as Green List (high evidence)
Craniosynostosis v0.5 ALX4 Bryony Thompson Gene: alx4 has been classified as Green List (High Evidence).
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
Craniosynostosis v0.3 SOX6 Seb Lunke Marked gene: SOX6 as ready
Craniosynostosis v0.3 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Craniosynostosis v0.3 SOX6 Seb Lunke Classified gene: SOX6 as Green List (high evidence)
Craniosynostosis v0.3 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Craniosynostosis v0.2 SOX6 Seb Lunke gene: SOX6 was added
gene: SOX6 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas
Review for gene: SOX6 was set to GREEN
gene: SOX6 was marked as current diagnostic
Added comment: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. Sources: Literature
Sources: Literature
Craniosynostosis v0.1 Zornitza Stark Panel name changed from Craniosynostosis_VCGS to Craniosynostosis
Panel types changed to Victorian Clinical Genetics Services
Craniosynostosis v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC1 was set to Unknown
Craniosynostosis v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWIST1 was set to Unknown
Craniosynostosis v0.0 TLK2 Zornitza Stark gene: TLK2 was added
gene: TLK2 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLK2 was set to Unknown
Craniosynostosis v0.0 TCF12 Zornitza Stark gene: TCF12 was added
gene: TCF12 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF12 was set to Unknown
Craniosynostosis v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A24 was set to Unknown
Craniosynostosis v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RUNX2 was set to Unknown
Craniosynostosis v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RECQL4 was set to Unknown
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
Craniosynostosis v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSX2 was set to Unknown
Craniosynostosis v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL11RA was set to Unknown
Craniosynostosis v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HUWE1 was set to Unknown
Craniosynostosis v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM1 was set to Unknown
Craniosynostosis v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR3 was set to Unknown
Craniosynostosis v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Craniosynostosis v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Craniosynostosis v0.0 FGF9 Zornitza Stark gene: FGF9 was added
gene: FGF9 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF9 was set to Unknown
Craniosynostosis v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF10 was set to Unknown
Craniosynostosis v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERF was set to Unknown
Craniosynostosis v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFNB1 was set to Unknown
Craniosynostosis v0.0 EFNA4 Zornitza Stark gene: EFNA4 was added
gene: EFNA4 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFNA4 was set to Unknown
Craniosynostosis v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC45 was set to Unknown
Craniosynostosis v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTG1 was set to Unknown
Craniosynostosis v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTB was set to Unknown
Craniosynostosis v0.0 Zornitza Stark Added panel Craniosynostosis_VCGS