Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ASXL2	gene	ASXL2	Literature;NHS GMS	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Shashi-Pena syndrome 617190				27693232		False	1	50;50;0	5.12	False		ENSG00000143970	ENSG00000143970	HGNC:23805													
CLIC2	gene	CLIC2	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886				28333917;31349857;22814392		False	1	0;67;33	5.12	False		ENSG00000155962	ENSG00000155962	HGNC:2063													
ERF	gene	ERF	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Craniosynostosis 4, OMIM:600775				 23354439		False	1	20;20;60	5.12	False		ENSG00000105722	ENSG00000105722	HGNC:3444													
FMR1	gene	FMR1	Expert Review Red;Literature;NHS GMS;UKGTN	Hydrocephalus		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fragile X syndrome, OMIM:300624						False	1	0;50;50	5.12	False	Other - please provide details in the comments	ENSG00000102081	ENSG00000102081	HGNC:3775													
GMPPB	gene	GMPPB	Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14  615352 						False	1	0;50;50	5.12	False		ENSG00000173540	ENSG00000173540	HGNC:22932													
ISLR2	gene	ISLR2	Expert list;Expert Review Red	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	hydrocephalus;arthrogryposis;abdominal distension				29739947;30483960		False	1	0;100;0	5.12	False		ENSG00000167178	ENSG00000167178	HGNC:29286													
MMACHC	gene	MMACHC	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblC type 						False	1	0;50;50	5.12	False		ENSG00000132763	ENSG00000132763	HGNC:24525													
NANS	gene	NANS	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 				27213289		False	1	0;50;50	5.12	False		ENSG00000095380	ENSG00000095380	HGNC:19237													
NMNAT2	gene	NMNAT2	Expert Review Red;Research	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	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				31136762		False	1	100;0;0	5.12	False		ENSG00000157064	ENSG00000157064	HGNC:16789													
NOTCH2	gene	NOTCH2	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hajdu-Cheney syndrome 				 21378985; 21681853		False	1	0;50;50	5.12	False		ENSG00000134250	ENSG00000134250	HGNC:7882													
NRAS	gene	NRAS	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology		Neurocutaneous melanosis, somatic 				18671780		False	1	0;50;50	5.12	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
OFD1	gene	OFD1	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Orofaciodigital syndrome I 						False	1	0;50;50	5.12	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
RNASEH2A	gene	RNASEH2A	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 4 						False	1	0;50;50	5.12	False		ENSG00000104889	ENSG00000104889	HGNC:18518													
TBC1D7	gene	TBC1D7	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000				23687350; 24515783		False	1	0;67;33	5.12	False		ENSG00000145979	ENSG00000145979	HGNC:21066													
TBX15	gene	TBX15	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cousin syndrome 				19068278		False	1	0;50;50	5.12	False		ENSG00000092607	ENSG00000092607	HGNC:11594													
TMEM216	gene	TMEM216	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 2 				20036350		False	1	0;50;50	5.12	False		ENSG00000187049	ENSG00000187049	HGNC:25018													
TTR	gene	TTR	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Amyloidosis, hereditary, transthyretin-related 105210				30878017;31131842;31118583;31111153;30120737		False	1	0;50;50	5.12	False		ENSG00000118271	ENSG00000118271	HGNC:12405													
WDR81	gene	WDR81	Expert Review Red;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	congenital hydrocephalus				28556411		False	1	0;100;0	5.12	False		ENSG00000167716	ENSG00000167716	HGNC:26600													
ZPR1	gene	ZPR1	Expert Review Red;Literature	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321				29851065		False	1	0;0;100	5.12	False		ENSG00000109917	ENSG00000109917	HGNC:13051