Hydrocephalus_Ventriculomegaly (Version 0.123)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 97 Entitiess
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Tags
Green Green List (high evidence)	AP1S2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ARSB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GLCT	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BUB1B	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Temtamy syndrome MIM#218340 Tags
Green Green List (high evidence)	CC2D2A	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CCDC88C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 236600 Tags
Green Green List (high evidence)	CCND2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CENPF	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Hydrocephalus ID Tags
Green Green List (high evidence)	COL4A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	DAG1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398 Tags
Green Green List (high evidence)	DLG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709 Tags
Green Green List (high evidence)	EEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus Tags
Green Green List (high evidence)	EML1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FAM20C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group B (MIM#300514) Tags
Green Green List (high evidence)	FGFR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pfeiffer syndrome, MIM# 101600 Tags
Green Green List (high evidence)	FGFR2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FGFR3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FKRP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FKTN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green Green List (high evidence)	FOXJ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Ciliary dyskinesia, primary, 43, MIM#618699 Tags
Green Green List (high evidence)	GFAP	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GLI3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Green Green List (high evidence)	GUSB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IDS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ISPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Tags
Green Green List (high evidence)	KIAA0586	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIAA1109	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIDINS220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, MIM# 619501 cerebral ventriculomegaly limb contractures Tags
Green Green List (high evidence)	KIF26A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Tags
Green Green List (high evidence)	KIF4A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 MASA syndrome, MIM# 303350 L1 syndrome, MONDO:0017140 Tags
Green Green List (high evidence)	LAMB1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LARGE1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MAN2B1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MCIDAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrocephalus Arachnoid cyst Choroid plexus hyperplasia Ciliary dyskinesia, primary, 42 - #618695 Tags
Green Green List (high evidence)	MPDZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 Tags
Green Green List (high evidence)	NF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NSD1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	OSTM1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cole-Carpenter syndrome 1, MIM#112240 Tags
Green Green List (high evidence)	PIK3CA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PIK3R2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Plasminogen deficiency, type I, MIM# 217090 Tags
Green Green List (high evidence)	POMGNT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMGNT2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMK	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMT2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PPP2R5D	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTCH1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNF125	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RPS6KA3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green Green List (high evidence)	SKI	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SMARCC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Tags
Green Green List (high evidence)	SNX10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	STRADA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SUFU	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SUMF1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TCF12	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 1, MIM# 259700 Tags
Green Green List (high evidence)	TMEM5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 7, MIM# 612301 Tags
Green Green List (high evidence)	TRIM71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hydrocephalus, congenital communicating, 1 618667 Tags
Green Green List (high evidence)	TWIST1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	USP9X	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WASHC5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ZBTB20	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ZIC2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ZIC3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	ARX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydranencephaly with abnormal genitalia, MIM# 300215 Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber Amber List (moderate evidence)	B4GAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 Tags
Amber Amber List (moderate evidence)	HYLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome (MIM#236680) Tags founder
Amber Amber List (moderate evidence)	ISLR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hydrocephalus arthrogryposis abdominal distension Tags
Amber Amber List (moderate evidence)	KIF7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hydrolethalus syndrome 2, MIM# 614120 Acrocallosal syndrome Tags
Amber Amber List (moderate evidence)	MTOR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital hydrocephalus macrocephaly Tags
Amber Amber List (moderate evidence)	WDR81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hydrocephalus Tags
Amber Amber List (moderate evidence)	WDR91	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hydrocephalus cerebellar hypoplasia hygroma Tags
Red Red List (low evidence)	COG8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type IIh 611182 Tags
Red Red List (low evidence)	CWH43	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Hydrocephalus MONDO:0001150, CWH43-related Tags cnv
Red Red List (low evidence)	FMR1	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 Expert Review Red Victorian Clinical Genetics Services Phenotypes Fragile X syndrome, MIM# 300624 Tags STR
Red Red List (low evidence)	MYMK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Carey-Fineman-Ziter syndrome OMIM #254940 Tags
Red Red List (low evidence)	TOGARAM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cleft of the lip and palate Microphthalmia Cerebral dysgenesis Hydrocephalus Tags
Red Red List (low evidence)	ZNF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrocephalus cleft palate microphthalmia Tags

Hydrocephalus_Ventriculomegaly (Version 0.123)

7 reviewers

97 Entities

45 reviewed, 82 green

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