Hydrops fetalis (Version 0.324)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 168 Entitiess
Green List (high evidence)	ADAMTS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154 Tags
Green List (high evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih, MIM#608104 Tags
Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green List (high evidence)	ANGPT2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphatic malformation-10, MIM#619369 Primary lymphoedema Hydrops Tags
Green List (high evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Green List (high evidence)	ATP1A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 hydrops fetalis microcephaly arthrogryposis extensive cortical malformations Tags
Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Tags
Green List (high evidence)	CDAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type Ia, MIM#224120 Tags
Green List (high evidence)	CELSR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 9, MIM# 619319 Tags
Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Achondrogenesis, type II or hypochondrogenesis, MIM#200610 Tags
Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosialidosis, MIM# 256540 Tags
Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Green List (high evidence)	DMPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1, MIM# 160900 Tags STR
Green List (high evidence)	DOK7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green List (high evidence)	EHBP1L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related Tags
Green List (high evidence)	EPHB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 7 (MIM#617300), AD Tags
Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thanatophoric dysplasia Tags
Green List (high evidence)	FLT4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 1, MIM# 153100 Tags
Green List (high evidence)	FOXC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoedema-distichiasis syndrome, MIM:153400 Tags
Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Tags
Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis IVA, MIM# 253000 Tags treatable
Green List (high evidence)	GATA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835 Tags
Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal,MIM# 608013 Tags
Green List (high evidence)	GBE1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GLB1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 1, MIM# 253310 Tags
Green List (high evidence)	GNPTAB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470 Tags
Green List (high evidence)	GUSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green List (high evidence)	HBA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thalassemias, alpha- , MIM#604131 Tags SV/CNV
Green List (high evidence)	HBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thalassemia, alpha-, MIM# 604131 Tags SV/CNV
Green List (high evidence)	HNRNPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Au-Kline syndrome, MIM# 616580 Tags
Green List (high evidence)	HRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KLF1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital Dyserythropoietic Anemia Type IV, MIM#613673 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Kabuki syndrome Tags
Green List (high evidence)	KRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Tags
Green List (high evidence)	LBR	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LIPA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LZTR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 10 Noonan syndrome 2 {Schwannomatosis-2, susceptibility to} Tags
Green List (high evidence)	MAP2K1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MAP2K2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MDFIC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 12, MIM# 620014 Tags
Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 Tags
Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mevalonic aciduria, MIM#610377 Tags
Green List (high evidence)	MYBBP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hydrops fetalis, MONDO:0015193, MYBBP1A-related Tags
Green List (high evidence)	NEU1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NEXN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal fetal cardiomyopathy Hydrops fetalis Cardiomyopathy, dilated 1CC - MIM#613122 Tags
Green List (high evidence)	NPC1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NRAS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX10	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX11B	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX12	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX13	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX14	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX16	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX19	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX26	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PEX7	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Tags
Green List (high evidence)	PIEZO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 6, MIM# 616843 Tags
Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pyruvate Kinase deficiency, MIM# 266200 Tags
Green List (high evidence)	PKP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related Tags
Green List (high evidence)	PMM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 Tags
Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aplastic anemia Hemophagocytic lymphohistiocytosis, familial, 2 AR Lymphoma, non-Hodgkin Tags
Green List (high evidence)	PTH1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes CHONDRODYSPLASIA, BLOMSTRAND TYPE BOCD Tags
Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome #163950 Tags
Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 5, MIM# 611553 Tags
Green List (high evidence)	RAPSN	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2, MIM# 618388 Tags
Green List (high evidence)	RASA1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Capillary malformation-arteriovenous malformation 1, MIM# 608354 Tags
Green List (high evidence)	RIT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-8, MIM:#615355 Tags
Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Diamond-Blackfan anemia 12 - MIM#615550 hydrops Tags
Green List (high evidence)	RRAS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 12 OMIM #618624 Tags
Green List (high evidence)	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central core disease, MIM# 117000 Multiple pterygium syndrome Tags
Green List (high evidence)	SCN5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Long QT syndrome 3 (MIM#603830) Tags
Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type II , MIM#224100 Tags
Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green List (high evidence)	SHOC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like with loose anagen hair 1, MIM: #607721 Tags
Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sialic acid storage disorder, infantile, MIM# 269920 Tags
Green List (high evidence)	SMPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Tags
Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 4 #MIM:610733 Tags
Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome 9, MIM# 616559 Tags
Green List (high evidence)	SOX18	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green List (high evidence)	SPTA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spherocytosis type 3 #270970 Elliptocytosis-2 #130600 pyropoikilocytosis #266140 Tags
Green List (high evidence)	TALDO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Transaldolase deficiency, MIM# 606003 Tags
Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Barth syndrome, MIM#302060 Tags
Green List (high evidence)	THSD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 13, MIM# 620244 Tags
Green List (high evidence)	UROS	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Porphyria, congenital erythropoietic, MIM# 263700 Tags
Amber List (moderate evidence)	AHCY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes 613752 Tags
Amber List (moderate evidence)	ALG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Ik, MIM#608540 Tags
Amber List (moderate evidence)	ALPK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Tags
Amber List (moderate evidence)	BICD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797) Tags
Amber List (moderate evidence)	CDK10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Al Kaissi syndrome MIM#617694 Tags
Amber List (moderate evidence)	DYNC2H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 Tags
Amber List (moderate evidence)	FRAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Fraser syndrome 1, MIM# 219000 Tags
Amber List (moderate evidence)	FZD6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hydrops fetalis, MONDO:0015193, FZD6-related Tags
Amber List (moderate evidence)	GATA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Emberger syndrome, MIM# 614038 Tags
Amber List (moderate evidence)	GLDN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lethal congenital contracture syndrome 11, MIM# 617194 Tags
Amber List (moderate evidence)	IDUA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hurler syndrome, MPS 1 Tags
Amber List (moderate evidence)	KLHL40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Amber List (moderate evidence)	MAPK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Noonan syndrome 13 MIM#619087 Tags
Amber List (moderate evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neu-Laxova syndrome 2, MIM# 616038 Tags
Amber List (moderate evidence)	SLC26A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Achondrogenesis Ib, MIM# 600972 Tags
Amber List (moderate evidence)	SLC30A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy Tags
Amber List (moderate evidence)	TRIP11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Achondrogenesis, type IA, MIM# 200600 Tags
Red List (low evidence)	AKT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Red List (low evidence)	ARSA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags
Red List (low evidence)	ARSE	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags
Red List (low evidence)	CALCRL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lymphatic malformation 8 (MIM# 618773) hydrops fetalis Tags
Red List (low evidence)	CANT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Desbuquois dysplasia 1, MIM#251450 Tags
Red List (low evidence)	CHRNE	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital myasthenic syndromes Tags
Red List (low evidence)	CLCNKA	1 review 1 red	Other	Sources Expert list Expert Review Red Phenotypes Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Red List (low evidence)	CLCNKB	1 review 1 red	Other	Sources Expert list Expert Review Red Phenotypes Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Red List (low evidence)	COG6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Congenital disorder of glycosylation, type Iil, MIM#614576 Tags
Red List (low evidence)	COLQ	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 5, MIM# 603034 Tags
Red List (low evidence)	EBP	1 review 1 red	Other	Sources Expert list Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960 Tags
Red List (low evidence)	ESCO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Roberts syndrome, MIM# 268300 Tags
Red List (low evidence)	FH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Fumarase deficiency, MIM# 606812 Tags
Red List (low evidence)	FLVCR2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Cystic hygroma hydrops hydranencephaly arthrogryposis Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Red List (low evidence)	FUCA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Fucosidosis, MIM# 230000 Tags
Red List (low evidence)	G6PD	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Hemolytic anemia, G6PD deficient (favism), MIM# 300908 Tags
Red List (low evidence)	GALC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Krabbe disease, MIM# 245200 Tags
Red List (low evidence)	GDF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lymphatic dysplasia hydrothorax hydrops Tags
Red List (low evidence)	GLA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Fabry disease, MIM# 301500 Tags
Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Tags
Red List (low evidence)	HADHA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes LCHAD deficiency, MIM# 609016 Tags
Red List (low evidence)	HADHB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Trifunctional protein deficiency, MIM# 609015 Tags
Red List (low evidence)	HEXA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Tay-Sachs disease, MIM# 272800 Tags
Red List (low evidence)	HEXB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 Tags
Red List (low evidence)	IFT122	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Beemer-Langer syndrome Tags
Red List (low evidence)	ITGA9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Chylothorax Tags disputed
Red List (low evidence)	KAT6B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Tags
Red List (low evidence)	KCNH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes long QT syndrome Tags
Red List (low evidence)	KCNQ1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Long QT syndrome 1, 192500 Tags
Red List (low evidence)	KDM6A	1 review 1 red	Other	Sources Expert list Expert Review Red Phenotypes Kabuki syndrome 2, MIM# 300867 Tags
Red List (low evidence)	KIAA0586	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Hydrolethalus short rib polydactyly Tags
Red List (low evidence)	KIF23	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital dyserythropoietic anaemia Tags
Red List (low evidence)	LAMB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Pierson syndrome, MIM# 609049 Tags
Red List (low evidence)	MAN2B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 Tags
Red List (low evidence)	MGAT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIa , MIM#212066 Tags
Red List (low evidence)	MID1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Opitz GBBB syndrome, type I 300000 Tags
Red List (low evidence)	NEK1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Red List (low evidence)	NIPBL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Cornelia de Lange syndrome 1, MIM# 122470 Tags
Red List (low evidence)	NPC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Niemann-pick disease, type C2, MIM# 607625 Tags
Red List (low evidence)	NPR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Genetic hypertension MONDO:0015512 Tags
Red List (low evidence)	PIGA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 Tags
Red List (low evidence)	PIK3CA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Red List (low evidence)	PIK3R2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Red List (low evidence)	RPL11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 7 Tags
Red List (low evidence)	RPL35A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 5, MIM# 612528 Tags
Red List (low evidence)	RPL5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 6, MIM# 612561 Tags
Red List (low evidence)	RPS10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 9, MIM# 613308 Tags
Red List (low evidence)	RPS19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 1, MIM# 105650 Tags
Red List (low evidence)	RPS24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-blackfan anemia 3, MIM# 610629 Tags
Red List (low evidence)	RPS26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 10, MIM# 613309 Tags
Red List (low evidence)	SLC22A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Carnitine deficiency, systemic primary, MIM# 212140 Tags
Red List (low evidence)	SLC35D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Schneckenbecken dysplasia, MIM# 269250 Tags
Red List (low evidence)	SUMF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Multiple sulfatase deficiency, MIM# 272200 Tags

Hydrops fetalis (Version 0.324)

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