The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Rare syndromic craniosynostosis or isolated multisuture synostosis (Version 4.180)

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.2
Previous code: 55b605f722c1fc05fd2345af

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R100 Rare syndromic craniosynostosis or isolated multisuture synostosis' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R100 Rare syndromic craniosynostosis or isolated multisuture synostosis'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

13 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrew Wilkie (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Helen Lord (Oxford Medical Genetics Laboratories)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Tooze (University of Oxford)

Group: GeCIP domain
Workplace: Research lab

199 Entities

199 reviewed, 82 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 199 Entitiess
Green Green List (high evidence)	ACTB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Baraitser-Winter syndrome 1, OMIM:243310 Baraitser-Winter syndrome 1, MONDO:0009470 Tags missense
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Baraitser-Winter syndrome 2, OMIM:614583 Tags missense
Green Green List (high evidence)	ADAMTSL4	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ectopia lentis 225200/225100 craniosynostosis with ectopia lentis, MONDO:0011347 Tags
Green Green List (high evidence)	AHDC1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Xia-Gibbs syndrome, OMIM:615829 Tags
Green Green List (high evidence)	ALPL	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes hypophosphatasia Tags
Green Green List (high evidence)	ALX4	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Parietal foramina Parietal foramina 2, (AD), 609597 Frontonasal dysplasia 2, (AR), 613451 Tags
Green Green List (high evidence)	ARID1B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Research Phenotypes Coffin-Siris syndrome 1, OMIM:135900 Tags
Green Green List (high evidence)	ARSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis VI (MPS6) 253200 Tags
Green Green List (high evidence)	ASXL1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Bohring-Opitz syndrome, 605039 Metopic synostosis frequently associated with Bohring-Opitz syndrome Tags
Green Green List (high evidence)	B3GAT3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis and bone fragility Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects OMIM:245600 Larsen-like syndrome, B3GAT3 type MONDO:0009511 Tags
Green Green List (high evidence)	BCL11B	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, OMIM:618092 Craniosynostosis, MONDO:0015469 Tags
Green Green List (high evidence)	BRAF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes cardiofaciocutaneous syndrome type 115150 Noonan syndrome type 7 613706 Tags
Green Green List (high evidence)	CDC45	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Coronal synostosis Meier-Gorlin syndrome 7, 617063 Tags
Green Green List (high evidence)	CDK13	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, OMIM:617360 craniosynostosis, MONDO:0015469 Tags
Green Green List (high evidence)	CHD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CHARGE syndrome, OMIM:214800 CHARGE syndrome, MONDO:0008965 Tags
Green Green List (high evidence)	COLEC11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 265050 3MC syndrome 2 265050 Tags
Green Green List (high evidence)	CTSK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Pycnodysostosis 265800 265800 Tags
Green Green List (high evidence)	CYP26B1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Tags
Green Green List (high evidence)	EFNB1	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags x-linked-over-dominance
Green Green List (high evidence)	ERF	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis 4, 600775 Craniosynostosis 4 Tags
Green Green List (high evidence)	FAM20C	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Raine syndrome 259775 Tags
Green Green List (high evidence)	FBN1	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Marfan syndrome, OMIM:154700 Marfan lipodystrophy syndrome, OMIM:616914 craniosynostosis, MONDO:0015469 Tags
Green Green List (high evidence)	FBXO11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 Tags
Green Green List (high evidence)	FGF9	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Multiple synostoses syndrome 3, OMIM:612961 Tags
Green Green List (high evidence)	FGFR1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Craniosynostosis Tags
Green Green List (high evidence)	FGFR2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Crouzon syndrome, 123500 Jackson-Weiss syndrome, 123150 Beare-Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Apert syndrome, 101200 Saethre-Chotzen Craniosynostosis, nonspecific syndrome, 101400 Gastric cance Craniosynostosis Tags
Green Green List (high evidence)	FGFR3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes Muenke syndrome Crouzon syndrome with acanthosis nigricans Tags
Green Green List (high evidence)	FLNA	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Phenotypes Frontometaphyseal dysplasia 1, OMIM:305620 Melnick-Needles syndrome, OMIM:309350 Otopalatodigital syndrome, type I, OMIM:311300 Otopalatodigital syndrome, type II, OMIM:304120 Tags
Green Green List (high evidence)	GLI3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Tags
Green Green List (high evidence)	GNAS	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Expert Review Green NHS GMS Phenotypes 103580 pseudohypoparathyroidism type 1a 103580 pseudohypoparathyroidism type 1a Tags
Green Green List (high evidence)	GNPTAB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 252500 Mucolipidosis II alpha/beta(I cell disease) 252500 Tags
Green Green List (high evidence)	HNRNPK	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Au-Kline syndrome, OMIM:616580 Tags
Green Green List (high evidence)	HUWE1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Phenotypes X-linked intellectual disability with CSS Tags
Green Green List (high evidence)	IDS	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 309900 Tags
Green Green List (high evidence)	IDUA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 607016 Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014 607014 Tags
Green Green List (high evidence)	IFT122	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cranioectodermal dysplasia type 1 OMIM:218330 cranioectodermal dysplasia 1 MONDO:0021093 Tags
Green Green List (high evidence)	IFT140	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 Tags
Green Green List (high evidence)	IHH	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Syndactyly, type 1, with or without craniosynostosis, OMIM:185900 Chr2q35dup syndrome Tags
Green Green List (high evidence)	IL11RA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis and dental anomalies, 614188 Craniosynostosis And Dental Anomalies Tags
Green Green List (high evidence)	IL6ST	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523 Tags
Green Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay Tags
Green Green List (high evidence)	JAG1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Green Green List (high evidence)	KAT6A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Mental retardation (with Craniosynostosis), 616268 Tags
Green Green List (high evidence)	KAT6B	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes KAT6B-related disorders Genitopatellar syndrome, OMIM:606170 Tags
Green Green List (high evidence)	KMT2D	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Kabuki syndrome 1, OMIM:147920 Tags
Green Green List (high evidence)	KRAS	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes cardiofaciocutaneous syndrome type 2 615278 Noonan syndrome type 3 609942 615278 609942 Tags
Green Green List (high evidence)	LTBP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIE, OMIM:619451 craniosynostosis, MONDO:0015469 Tags
Green Green List (high evidence)	MAN2B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 Tags
Green Green List (high evidence)	MEGF8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 614976 Carpenter 2 614976 Tags
Green Green List (high evidence)	MSX2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Craniosynostosis, type 2, 604757 Parietal foramina 1, 168500 Parietal foramina with cleidocranial dysplasia, 168550 Craniosynostosis MSX2-related craniosynostosis Tags
Green Green List (high evidence)	NFIA	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Metopic synostosis, hydrocephalus, thin corpus callosum, mild developmental delay, autism, macrocephaly Tags
Green Green List (high evidence)	NFIX	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Malan syndrome, OMIM:614753 Marshall-Smith syndrome, OMIM:602535 craniosynostosis, MONDO:0015469 Tags
Green Green List (high evidence)	P4HB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cole-Carpenter syndrome 1 112240 Tags
Green Green List (high evidence)	PHEX	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Phenotypes X-linked hypophosphataemic rickets Tags
Green Green List (high evidence)	POR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Tags
Green Green List (high evidence)	PRRX1	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Agnathia-otocephaly complex, OMIM:202650 craniosynostosis, MONDO:0015469 craniosynostosis, various combinations of sutures Tags
Green Green List (high evidence)	PTCH1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes metopic craniosynostosis Tags
Green Green List (high evidence)	PTPN11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Noonan syndrome type 1 163950 leopard syndrome 151100 Tags
Green Green List (high evidence)	RAB23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes Carpenter syndrome 201000 201000 Tags
Green Green List (high evidence)	RECQL4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 218600 Baller-Gerold syndrome 218600 Tags
Green Green List (high evidence)	RSPRY1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 Tags
Green Green List (high evidence)	RUNX2	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Craniosynostosis 156510 Tags gene-duplication
Green Green List (high evidence)	SIX1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes sagittal synostosis, multi-suture synostosis Tags
Green Green List (high evidence)	SKI	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Shprintzen-Goldberg syndrome 182212 182212 Tags
Green Green List (high evidence)	SLC25A24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags
Green Green List (high evidence)	SMAD6	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes metopic synostosis sagittal synostosis {Craniosynostosis 7, susceptibility to} 617439 Tags curated-variant-list polygenic
Green Green List (high evidence)	SMO	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Curry-Jones syndrome, somatic mosaic, 601707 Tags mosaicism somatic
Green Green List (high evidence)	SOX6	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Tolchin-Le Caignec syndrome, OMIM:618971 craniosynostosis Tags
Green Green List (high evidence)	SPECC1L	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Opitz GBBB syndrome, type II 145410 Tags
Green Green List (high evidence)	STAT3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Hyper IgE recurrent infection syndrome 147060 147060 Tags
Green Green List (high evidence)	TCF12	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis 3, 615314 Craniosynostosis 3 Tags
Green Green List (high evidence)	TFAP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Char syndrome 169100 Tags
Green Green List (high evidence)	TGFBR1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 1 609192 609192 Tags
Green Green List (high evidence)	TGFBR2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes 610168 Loeys-Dietz syndrome 2 610168 Tags
Green Green List (high evidence)	TLK2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Mental retardation, autosomal dominant 57, OMIM:618050 Mental retardation, autosomal dominant 57, MONDO:0054837 Tags
Green Green List (high evidence)	TMCO1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes MR syndrome Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism skeletal anomalies Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 Tags
Green Green List (high evidence)	TRAF7	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes craniosynostosis Tags
Green Green List (high evidence)	TWIST1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Saethre-Chotzen syndrome, 101400 Saethre-Chotzen syndrome with eyelid anomalies, 101400 Craniosynostosis, type 1, 123100 Robinow-Sorauf syndrome, 180750 Tags
Green Green List (high evidence)	WDR35	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610 613610 Tags
Green Green List (high evidence)	ZEB2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Mowat-Wilson syndrome 235730 235730 Tags
Green Green List (high evidence)	ZIC1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes ?Craniosynostosis 6, 616602 Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 Tags
Green Green List (high evidence)	ZNF462	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Weiss-Kruszka syndrome, OMIM:618619 weiss-kruszka syndrome, MONDO:0032836 Tags
Amber Amber List (moderate evidence)	ANKH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Craniometaphyseal dysplasia, OMIM:123000 craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	ASXL3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bainbridge-Ropers syndrome, OMIM:615485 craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	AXIN2	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Oligodontia-colorectal cancer syndrome, OMIM:608615 craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	CHD5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parenti-Mignot neurodevelopmental syndrome, OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags watchlist
Amber Amber List (moderate evidence)	DDX3X	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	DPF2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber Amber List (moderate evidence)	DPH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Tags
Amber Amber List (moderate evidence)	ESCO2	3 reviews 1 red	Not set	Sources Expert list Expert Review Amber NHS GMS Phenotypes Roberts syndrome SC phocomelia syndrome Tags
Amber Amber List (moderate evidence)	FGF10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	FREM1	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Trigonocephaly 2, OMIM:614485 Tags
Amber Amber List (moderate evidence)	GPC3	5 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber NHS GMS Phenotypes Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870 Tags
Amber Amber List (moderate evidence)	IRX5	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber NHS GMS Phenotypes Hamamy syndrome, OMIM:611174 Tags
Amber Amber List (moderate evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Amber Amber List (moderate evidence)	KPTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 craniosynostosis, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	MASP1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 3MC syndrome 1, OMIM:257920 3MC syndrome 1, MONDO:0009770 Tags
Amber Amber List (moderate evidence)	OGT	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 106, OMIM:300997 Tags
Amber Amber List (moderate evidence)	PJA1	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Amber Phenotypes Trigonocephaly Intellectual disability Neurodevelopmental disorders Tags founder-effect
Amber Amber List (moderate evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506 Tags
Amber Amber List (moderate evidence)	RNU12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes CDAGS syndrome, OMIM:603116 craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:001128 Tags currently-ngs-unreportable gene-checked
Amber Amber List (moderate evidence)	SEC24D	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cole-Carpenter syndrome 2 616294 Tags
Amber Amber List (moderate evidence)	SHOC2	2 reviews	Not set	Sources Expert Review Amber NHS GMS Phenotypes Noonan-like syndrome with loose anagen hair 607721 Tags
Amber Amber List (moderate evidence)	SMAD3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Loeys-Dietz syndrome 3, OMIM:613795 Tags
Amber Amber List (moderate evidence)	SPRY1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	ABCC9	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 Tags
Red Red List (low evidence)	ACVR2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	ACVRL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	ALX1	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Frontonasal dysplasia type 3 Tags
Red Red List (low evidence)	ALX3	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Frontonasal dysplasia type 1 (frontorhiny) Tags
Red Red List (low evidence)	ARAP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	ATR	3 reviews 1 red	Not set	Sources Expert list Expert Review Red NHS GMS Phenotypes Seckel syndrome 1 210600 Tags
Red Red List (low evidence)	AXIN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	BBS9	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Bardet-Biedl syndrome 9 615986 Tags
Red Red List (low evidence)	BMP4	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes orofacial cleft Microphthalmia, syndromic type 6 607932 Tags
Red Red List (low evidence)	BRWD3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	CACNA1E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	CCBE1	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 Tags
Red Red List (low evidence)	CD96	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes C syndrome Tags
Red Red List (low evidence)	CDK8	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	CEP120	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes short rib thoracic dysplasia 13 +/- polydactyly Joubert syndrome 31 Tags
Red Red List (low evidence)	CHD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	CHST3	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations Tags
Red Red List (low evidence)	COL11A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	COLEC10	2 reviews	Not set	Sources NHS GMS Phenotypes MC syndrome 3 248340 Tags
Red Red List (low evidence)	CRTAP	2 reviews	Not set	Sources NHS GMS Phenotypes Cole Carpenter Tags
Red Red List (low evidence)	CTNNA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	DHRS3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review NHS GMS Phenotypes coronal craniosynostosis, septal heart defects Tags
Red Red List (low evidence)	DVL3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	EDNRB	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Waardenburg syndrome ABCD syndrome Hirschprung disease Tags
Red Red List (low evidence)	EFNA4	3 reviews 2 red	Not set	Sources Expert list Expert Review Red NHS GMS Tags
Red Red List (low evidence)	EHMT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	EIF5A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	EXTL3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 Tags
Red Red List (low evidence)	FGF3	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes congenital deafness with inner ear agenesis, microtia and microdontia Tags
Red Red List (low evidence)	FLNB	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes spondylo-carpel-tarsel dysplasia Larsen syndrome (dominant) atelsteogenesis type 1/3 Tags
Red Red List (low evidence)	FOXO1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	FOXP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	FOXP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	FTO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	FUZ	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	GINS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Meier-Gorlin syndrome with craniosynostosis Tags
Red Red List (low evidence)	GLI2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	GLIS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	GPC4	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	H3F3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	H3F3B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	HDAC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags cnv
Red Red List (low evidence)	HIST1H1E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags new-gene-name
Red Red List (low evidence)	IFRD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	IFT43	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Short-rib thoracic dysplasia 18 with polydactyly 617866 Cranioectodermal dysplasia type 3 614099 Tags
Red Red List (low evidence)	IGF1R	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450 Tags
Red Red List (low evidence)	IMPAD1	3 reviews	Not set	Sources NHS GMS Phenotypes Chondrodysplasia with joint dislocations, GPAPP type Tags new-gene-name
Red Red List (low evidence)	KANSL1	2 reviews 1 red	Not set	Sources Expert Review Red Phenotypes Koolen-de Vries/KANSL haploinsufficiency syndrome. Tags
Red Red List (low evidence)	KDM6A	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Kabuki syndrome 2 300867 Tags
Red Red List (low evidence)	KMT5B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	LMX1B	3 reviews 2 red	Not set	Sources Expert list Expert Review Red NHS GMS Phenotypes Nail-patella syndrome - LOF Tags
Red Red List (low evidence)	LRP5	3 reviews 1 red	Not set	Sources Expert list Expert Review Red NHS GMS Tags
Red Red List (low evidence)	MACF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	MED13L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	MMP21	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	NAA25	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	NOG	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Tarsal-carpal coalition syndrome Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome) Brachydactyly type B2 Multiple synostosis syndrome Symphalangism, proximal Tags
Red Red List (low evidence)	NTRK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Obesity, hyperphagia, and developmental delay, OMIM:613886 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	OSTM1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5, OMIM:259720 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PAX3	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Waardenburg syndrome Craniofacial-deafness-hand syndrome Tags
Red Red List (low evidence)	PITX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	POLR2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PSMC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PSMC5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PSMD12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PTH2R	1 review 1 red	Other	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	PTPRD	2 reviews	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	PUF60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	RASAL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SCARF2	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Phenotypes Van den Ende-Gupta syndrome Tags
Red Red List (low evidence)	SCN4A	2 reviews 1 red	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	SCN8A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SH3BP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SH3PXD2B	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Phenotypes Borrone dermato-cardio-skeletal syndrome Frank-ter-har 249420 249420 Tags
Red Red List (low evidence)	SIX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes six2-related frontonasal dysplasia, MONDO:0044628 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SLC3A2	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes no disorder assigned on OMIM - possible role in immune function based on mouse studies. Tags
Red Red List (low evidence)	SMAD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Loeys-Dietz syndrome 6, OMIM:619656 Tags
Red Red List (low evidence)	SMARCD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SMC1A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SMURF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SOX10	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Hirschsprung disease Waardenburg syndrome Peripheral demyelinating neuropathy central dysmyelination Tags
Red Red List (low evidence)	SP7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SPRY4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	SRCAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	TCOF1	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes Treacher-Collins syndrome Tags
Red Red List (low evidence)	TICRR	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review NHS GMS Phenotypes coronal craniosynostosis, cardiomyopathy Tags
Red Red List (low evidence)	TMEM251	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Dysostosis multiplex, Ain-Naz type, OMIM:619345 craniosynostosis, MONDO:0015469 Tags gene-checked new-gene-name
Red Red List (low evidence)	TWIST2	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Ablepharon-macrostomia syndrome Barber-Say syndrome Focal facial dermal dysplasia 3, Setleis type Tags
Red Red List (low evidence)	WDR19	2 reviews	Not set	Sources NHS GMS Phenotypes Cranioectodermal dysplasia type 4 614378 Tags
Red Red List (low evidence)	ZBTB20	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Primrose syndrome, OMIM:259050 craniosynostosis, MONDO:0015469 Tags
Red Red List (low evidence)	ZCCHC11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469 Tags
No list No list	ACTG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Baraitser-Winter syndrome 2, MIM# 614583 Tags
No list No list	KANSL1-AS1	2 reviews	Not set	Sources Expert Review Removed NHS GMS Tags curated_removed

Major version comments

2023-03-22 15:41 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:53 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0)

2019-09-17 13:00 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.134) was signed off under NHS Genomic Medicine Service governance on (17/September/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Finalised for v1.0

Rare syndromic craniosynostosis or isolated multisuture synostosis (Version 4.180)

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