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
ARX	gene	ARX	Expert Review Amber;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)	Hydranencephaly with abnormal genitalia, OMIM:300215				14722918		False	2	0;100;0	5.12	False		ENSG00000004848	ENSG00000004848	HGNC:18060													
B3GNT2	gene	B3GNT2	Expert Review Amber;NHS GMS;Other	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120				23359570; 23877401 		False	2	0;100;0	5.12	False		ENSG00000170340	ENSG00000170340	HGNC:15629													
EBP	gene	EBP	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MEND syndrome, OMIM:300960				20949533		False	2	0;100;0	5.12	False		ENSG00000147155	ENSG00000147155	HGNC:3133													
FAAP100	gene	FAAP100	Expert Review Amber;Literature	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group X, OMIM:621258				40232843;40244696		False	2	100;0;0	5.12	False		ENSG00000185504	ENSG00000185504	HGNC:26171													
FLNA	gene	FLNA	Expert Review Amber;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)	Otopalatodigital syndrome, type II, OMIM:304120						False	2	0;100;0	5.12	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FSD1L	gene	FSD1L	Expert Review Amber;Literature	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41720098;41720099		False	2	100;0;0	5.12	False		ENSG00000106701	ENSG00000106701	HGNC:13753													
HDAC6	gene	HDAC6	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863				20181727; 16001442		False	2	0;100;0	5.12	False		ENSG00000094631	ENSG00000094631	HGNC:14064													
ICK	gene	ICK	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980				19185282		False	2	0;100;0	5.12	False	Other - please provide details in the comments	ENSG00000112144	ENSG00000112144	HGNC:21219													
KIF26A	gene	KIF26A	Expert Review Amber;Other	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332				36228617;36564622;39305096		False	2	100;0;0	5.12	False		ENSG00000066735	ENSG00000066735	HGNC:20226													
KIF7	gene	KIF7	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Hydrolethalus syndrome 2, OMIM:614120				21552264;26174511		False	2	0;100;0	5.12	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
LDB1	gene	LDB1	Expert Review Amber;Literature	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital hydrocephalus, MONDO:0016349				39680505;38091987;33077954		False	2	100;0;0	5.12	False		ENSG00000198728	ENSG00000198728	HGNC:6532													
MTM1	gene	MTM1	Expert Review Amber;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)	Myopathy, centronuclear, X-linked, OMIM:310400				8588581; 9931531; 10790201		False	2	0;100;0	5.12	False		ENSG00000171100	ENSG00000171100	HGNC:7448													
MYMK	gene	MYMK	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700				28681861		False	2	0;75;25	5.12	False		ENSG00000187616	ENSG00000187616	HGNC:33778													
P4HB	gene	P4HB	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cole-Carpenter syndrome 1, OMIM:112240				25683117;30063094;29263160;29384951		False	2	25;75;0	5.12	False		ENSG00000185624	ENSG00000185624	HGNC:8548													
PTCH2	gene	PTCH2	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Basal cell nevus syndrome, OMIM:109400				18285427;23479190;3986729		False	2	0;100;0	5.12	False		ENSG00000117425	ENSG00000117425	HGNC:9586													
SEC24D	gene	SEC24D	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cole-Carpenter syndrome 2, OMIM:616294				25683121;30462379;27942778;26467156		False	2	25;75;0	5.12	False		ENSG00000150961	ENSG00000150961	HGNC:10706													
WNT3	gene	WNT3	Expert Review Amber;Literature;NHS GMS	Hydrocephalus		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Tetra-amelia syndrome 1, OMIM:273395				14872406		False	2	0;100;0	5.12	False		ENSG00000108379	ENSG00000108379	HGNC:12782