Hydrocephalus (Version 4.4)

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

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 'R86 Hydrocephalus' 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 'R86 Hydrocephalus'.

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

12 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

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

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

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

Group: Other
Workplace: Other
Helen Brittain (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
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Michael Coleman (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

108 Entities

108 reviewed, 78 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 108 Entitiess
Green Green List (high evidence)	AKT3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism somatic
Green Green List (high evidence)	AP1S2	4 reviews 1 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 Green Literature NHS GMS Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Green Green List (high evidence)	ARSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200 Tags
Green Green List (high evidence)	B3GALNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 Tags
Green Green List (high evidence)	B3GLCT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Peters-plus syndrome, OMIM:261540 Tags
Green Green List (high evidence)	B4GAT1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green Green List (high evidence)	BUB1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300 Tags
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Joubert syndrome 9, OMIM:612285 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600 Tags
Green Green List (high evidence)	CCND2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 Tags
Green Green List (high evidence)	CENPF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Stromme syndrome, OMIM:243605 Tags
Green Green List (high evidence)	CEP83	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Nephronophthisis 18, OMIM:615862 Tags
Green Green List (high evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Brain small vessel disease with or without ocular anomalies, OMIM:175780 Tags
Green Green List (high evidence)	CRB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Ventriculomegaly with cystic kidney disease, OMIM:219730 Tags
Green Green List (high evidence)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 Tags
Green Green List (high evidence)	DENND5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 49, OMIM:617281 Tags
Green Green List (high evidence)	DHCR24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Desmosterolosis, OMIM:602398 Tags
Green Green List (high evidence)	EEF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes hydrocephaly Tags
Green Green List (high evidence)	EML1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Band heterotopia, OMIM:600348 Tags
Green Green List (high evidence)	ERF	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Craniosynostosis 4, OMIM:600775 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	FAM20C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Raine syndrome, OMIM:259775 Tags
Green Green List (high evidence)	FANCB	4 reviews 1 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 Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752 Fanconi anemia, complementation group B, OMIM:300514 Tags
Green Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Pfeiffer syndrome, OMIM:101600 Tags
Green Green List (high evidence)	FGFR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Apert syndrome, OMIM:101200 Crouzon syndrome, OMIM:123500 Tags
Green Green List (high evidence)	FGFR3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Achondroplasia, OMIM:100800 Thanatophoric dysplasia, OMIM:187600 Crouzon syndrome with acanthosis nigricans, OMIM:612247 Muenke syndrome, OMIM:602849 Tags
Green Green List (high evidence)	FKRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153 Tags
Green Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800 Tags
Green Green List (high evidence)	FLVCR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790 Tags
Green Green List (high evidence)	GFAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Alexander disease, OMIM:203450 Tags
Green Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Tags
Green Green List (high evidence)	GPSM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Chudley-McCullough syndrome, OMIM:604213 Tags
Green Green List (high evidence)	GUSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis VII, OMIM:253220 Tags
Green Green List (high evidence)	HYLS1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Hydrolethalus syndrome, OMIM:236680 Tags founder-effect to_be_confirmed_NHSE
Green Green List (high evidence)	IDS	2 reviews 1 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 Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis II, OMIM:309900 Tags
Green Green List (high evidence)	ISPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 Tags new-gene-name
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 Tags
Green Green List (high evidence)	KIAA1109	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Alkuraya-Kucinskas syndrome, OMIM:617822 Tags new-gene-name
Green Green List (high evidence)	KIDINS220	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501 Tags
Green Green List (high evidence)	L1CAM	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Corpus callosum, partial agenesis of, OMIM:304100 CRASH syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 MASA syndrome, OMIM:303350 Tags
Green Green List (high evidence)	LAMB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Lissencephaly 5, OMIM:615191 Tags
Green Green List (high evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154 Tags
Green Green List (high evidence)	MAN2B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 Tags
Green Green List (high evidence)	MPDZ	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 Tags
Green Green List (high evidence)	MYMK	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	NF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurofibromatosis, type 1, OMIM:162200 Tags
Green Green List (high evidence)	NSD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Sotos syndrome 1, OMIM:117550 Tags
Green Green List (high evidence)	OSTM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5, OMIM:259720 Tags
Green Green List (high evidence)	PIK3CA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 Tags somatic
Green Green List (high evidence)	PIK3R2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green Green List (high evidence)	PLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Plasminogen deficiency, type I, OMIM:217090 Dysplasminogenemia, OMIM:217090 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280 Tags
Green Green List (high evidence)	POMGNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830 Tags
Green Green List (high evidence)	POMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 Tags
Green Green List (high evidence)	POMT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670 Tags
Green Green List (high evidence)	POMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Tags
Green Green List (high evidence)	PPP2R5D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Mental retardation, autosomal dominant 35, OMIM:616355 Tags
Green Green List (high evidence)	PTCH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Basal cell nevus syndrome, OMIM:109400 Tags
Green Green List (high evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Macrocephaly/autism syndrome, OMIM:605309 Tags
Green Green List (high evidence)	RNF125	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Tenorio syndrome, OMIM:616260 Tags
Green Green List (high evidence)	RPS6KA3	2 reviews 1 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 Green Literature NHS GMS Phenotypes Coffin-Lowry syndrome, OMIM:303600 Tags
Green Green List (high evidence)	SKI	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Shprintzen-Goldberg syndrome, OMIM:182212 Tags
Green Green List (high evidence)	SMARCC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Aqueductal stenosis Septal agenesis Corpus callosum abnormalities {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241 Tags
Green Green List (high evidence)	SNX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Osteopetrosis, autosomal recessive 8, OMIM:615085 Tags
Green Green List (high evidence)	STRADA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Tags
Green Green List (high evidence)	SUFU	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Basal cell nevus syndrome, OMIM:109400 Tags
Green Green List (high evidence)	SUMF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Multiple sulfatase deficiency, OMIM:272200 Tags
Green Green List (high evidence)	TBC1D32	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
Green Green List (high evidence)	TCF12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Craniosynostosis 3, OMIM:615314 Tags
Green Green List (high evidence)	TCIRG1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 1, OMIM:259700 Tags
Green Green List (high evidence)	TMEM5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 Tags new-gene-name
Green Green List (high evidence)	TNFRSF11A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 7, OMIM:612301 Tags
Green Green List (high evidence)	TRIM71	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hydrocephalus, congenital communicating, 1, OMIM:618667 Tags gene-checked
Green Green List (high evidence)	TWIST1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400 Tags
Green Green List (high evidence)	USP9X	2 reviews 1 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 Green Literature NHS GMS Phenotypes Mental retardation, X-linked 99, OMIM:300919 Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968 Tags
Green Green List (high evidence)	WASHC5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Ritscher-Schinzel syndrome 1, OMIM:220210 Tags
Green Green List (high evidence)	ZBTB20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Primrose syndrome, OMIM:259050 Tags
Green Green List (high evidence)	ZIC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Holoprosencephaly 5, OMIM:609637 Tags
Green Green List (high evidence)	ZIC3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature NHS GMS Phenotypes VACTERL association, X-linked, OMIM:314390 Tags
Amber Amber List (moderate evidence)	ARX	2 reviews	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 NHS GMS Phenotypes Hydranencephaly with abnormal genitalia, OMIM:300215 Tags watchlist
Amber Amber List (moderate evidence)	B3GNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120 Tags watchlist
Amber Amber List (moderate evidence)	EBP	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature NHS GMS Phenotypes MEND syndrome, OMIM:300960 Tags watchlist
Amber Amber List (moderate evidence)	FLNA	2 reviews	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 NHS GMS Phenotypes Otopalatodigital syndrome, type II, OMIM:304120 Tags
Amber Amber List (moderate evidence)	HDAC6	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature NHS GMS Phenotypes ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863 Tags watchlist
Amber Amber List (moderate evidence)	ICK	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	KIF7	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes ?Hydrolethalus syndrome 2, OMIM:614120 Tags watchlist
Amber Amber List (moderate evidence)	MTM1	2 reviews	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 NHS GMS Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Amber Amber List (moderate evidence)	P4HB	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Phenotypes Cole-Carpenter syndrome 1, OMIM:112240 Tags watchlist
Amber Amber List (moderate evidence)	PTCH2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Phenotypes Basal cell nevus syndrome, OMIM:109400 Tags watchlist
Amber Amber List (moderate evidence)	SEC24D	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Cole-Carpenter syndrome 2, OMIM:616294 Tags watchlist
Amber Amber List (moderate evidence)	WNT3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes ?Tetra-amelia syndrome 1, OMIM:273395 Tags
Red Red List (low evidence)	ASXL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature NHS GMS Phenotypes Shashi-Pena syndrome 617190 Tags
Red Red List (low evidence)	CLIC2	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature NHS GMS Phenotypes Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886 Tags watchlist
Red Red List (low evidence)	FMR1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature NHS GMS UKGTN Phenotypes Fragile X syndrome, OMIM:300624 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	GMPPB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Red Red List (low evidence)	ISLR2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes hydrocephalus arthrogryposis abdominal distension Tags
Red Red List (low evidence)	MMACHC	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type Tags
Red Red List (low evidence)	NANS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type Tags
Red Red List (low evidence)	NMNAT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Research Phenotypes hydrops fetalis cystic hygroma bilateral hypoplastic lungs hydrocephalus hypoplastic cerebellum severely reduced skeletal muscle mass or absence flexion contractures of all extremities micrognathia cleft palate hydropic placenta Tags
Red Red List (low evidence)	NOTCH2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature NHS GMS Phenotypes Hajdu-Cheney syndrome Tags
Red Red List (low evidence)	NRAS	2 reviews 1 red	Not set	Sources Expert Review Red Literature NHS GMS Phenotypes Neurocutaneous melanosis, somatic Tags
Red Red List (low evidence)	OFD1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature NHS GMS Phenotypes Orofaciodigital syndrome I Tags
Red Red List (low evidence)	RNASEH2A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Aicardi-Goutieres syndrome 4 Tags
Red Red List (low evidence)	TBC1D7	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 Tags
Red Red List (low evidence)	TBX15	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Cousin syndrome Tags
Red Red List (low evidence)	TMEM216	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Joubert syndrome 2 Tags
Red Red List (low evidence)	TTR	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Amyloidosis, hereditary, transthyretin-related 105210 Tags adult-onset treatable
Red Red List (low evidence)	WDR81	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes congenital hydrocephalus Tags watchlist
Red Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect

Major version comments

2023-03-22 14:58 Eleanor Williams (Genomics England Curator) 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 13:48 Eleanor Williams (Genomics England Curator) 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) following this.

2019-10-18 15:58 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.37) was signed off under NHS Genomic Medicine Service governance on (18/October/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

31.05.2017 - panel revised after internal curation and clinical review.

Hydrocephalus (Version 4.4)

12 reviewers

108 Entities

108 reviewed, 78 green

3 reviews

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4 reviews

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2 reviews

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2 reviews

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2 reviews

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4 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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Phenotypes

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3 reviews

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Phenotypes

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