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;Victorian Clinical Genetics Services	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydranencephaly with abnormal genitalia, MIM# 300215			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	14722918		False	2	0;100;0	0.127	True		ENSG00000004848	ENSG00000004848	HGNC:18060													
ATP11A	gene	ATP11A	Expert Review Amber;Literature	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukodystrophy, hypomyelinating, 24 , MIM# 619851			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	PMID: 34403372		False	2	0;100;0	0.127	True	Other	ENSG00000068650	ENSG00000068650	HGNC:13552													
B4GAT1	gene	B4GAT1	Expert list;Expert Review Amber	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	615287"			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	PMID: 23359570;23877401		False	2	0;100;0	0.127	True		ENSG00000174684	ENSG00000174684	HGNC:15685													
HYLS1	gene	HYLS1	Expert Review Amber;Victorian Clinical Genetics Services	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680)			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	15843405;18648327;19400947;19656802;32509774		False	2	0;100;0	0.127	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
ISLR2	gene	ISLR2	Expert Review Amber;Literature	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	hydrocephalus;arthrogryposis;abdominal distension			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	30483960		False	2	0;100;0	0.127	True		ENSG00000167178	ENSG00000167178	HGNC:29286													
KIF7	gene	KIF7	Expert list;Expert Review Amber	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome 2, MIM# 614120;Acrocallosal syndrome			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	26174511;21552264		False	2	0;100;0	0.127	True		ENSG00000166813	ENSG00000166813	HGNC:30497													
MTOR	gene	MTOR	Expert Review Amber;Literature	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital hydrocephalus;macrocephaly			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	33077954		False	2	0;100;0	0.127	True	Other	ENSG00000198793	ENSG00000198793	HGNC:3942													
WDR81	gene	WDR81	Expert list;Expert Review Amber	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrocephalus			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	28556411		False	2	0;100;0	0.127	True		ENSG00000167716	ENSG00000167716	HGNC:26600													
WDR91	gene	WDR91	Expert Review Amber;Literature	Hydrocephalus_Ventriculomegaly		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrocephalus;cerebellar hypoplasia;hygroma			Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119	34028500;28860274;32732226		False	2	0;100;0	0.127	True		ENSG00000105875	ENSG00000105875	HGNC:24997