Fetal hydrops (Version 1.64)

Description

Fetal hydrops inclusion criteria (37590)
•	Non-immune fetal hydrops surviving >16 weeks gestation, AND
•	Normal infection screen (including parvovirus, CMB, rubella +- syphilis, VZV), AND
•	No evidence of Rh or other blood group incompatibility, AND
•	Haemoglobinopathy excluded where present in parent, AND
•	Normal fetal +- neonatal amniotic fluid screen for storage disorders (glycosaminglycans), AND
•	If IUGR: normal placental artery dopplers AND middle cerebral artery Doppler <1.5MoM

Please note: samples from ongoing pregnancies should NOT be included

Fetal hydrops exclusion criteria (37590)
•	Isolated structural cardiac anomaly or cardiac arrhythmia
•	Fetal tumour
•	Fetal lung mass
•	Maternal pre-eclampsia
•	Poorly controlled maternal DM/hypothyroidism
•	Twin-twin transfusion

Prior genetic testing guidance (37590)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Fetal hydrops prior genetic testing genes (37590)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- Consideration of RASopathy screen (low threshold for PTPN11 exons 3 & 8)
- Low threshold Niemann Pick analysis if splenomegaly or Ashkenazi ancestry

Closing statement (37590)
These requirements will be kept under continual review during the main programme and may be subject to change.

Note that Fetal hydrops (Hydrops fetalis) is a symptom and end-stage result of many disorders.

Panel Activity

13 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Tessa Homfray (Consultant Medical Genetics NHS)

Group: GeCIP domain
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Liona Poon (The Chinese University of Hong Kong)

Group: GeCIP domain
Workplace: Other
Richard Choy (Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong)

Group: GeCIP domain
Workplace: Other diagnostic lab
Diana Wellesley (nhs)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Irina Adamena (Children's Clinical University Hospital)

Group: Other
Workplace: Other

112 Entities

112 reviewed, 61 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 112 Entitiess
Green Green List (high evidence)	AHCY	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-immune hydrops Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 S-adenosylhomocysteine hydrolase deficiency AHCY deficiency Tags
Green Green List (high evidence)	ALG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih, MIM#608104 Tags
Green Green List (high evidence)	ASAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes disseminated lipogranulomatosis (Farber disease) NIHF nonimmune hydrops fetalis Tags
Green Green List (high evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes LEOPARD Syndrome Noonan Syndrome Cardiofaciocutaneous Syndrome LEOPARD syndrome 3 Cardio-facio-cutaneous syndrome Tags
Green Green List (high evidence)	CBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Other Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 NSLL Noonan syndrome-like disorder associated with JMML Fetal hydrops (in some patients) Tags
Green Green List (high evidence)	CCBE1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 generalised lymphatic dysplasia fetal hydrops Tags
Green Green List (high evidence)	CDAN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type Ia, OMIM:224120 Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 Tags
Green Green List (high evidence)	CTSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galactosialidosis, 256540 Tags
Green Green List (high evidence)	EPHB4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Lymphatic malformation 7, OMIM:617300 Tags
Green Green List (high evidence)	FLT4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Other Phenotypes Lymphedema, hereditary, IA, 153100 Hereditary lymphoedema type 1a fetal hydrops Tags
Green Green List (high evidence)	FOXC2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Other Phenotypes Lymphedema-distichiasis syndrome, 153400 fetal hydrops Tags
Green Green List (high evidence)	FOXP3	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Other Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 IPEX X-linked syndrome of immunodysregulation, polyendocrinopathy, and enteropath fetal hydrops Absent skeletal Muscle Tags
Green Green List (high evidence)	GALNS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A Morquio disease type A Tags
Green Green List (high evidence)	GBA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gaucher disease Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013 Tags new-gene-name
Green Green List (high evidence)	GBE1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Glycogen storage disease IV, OMIM:232500 Fetal hydrops (in perinatal or congenital neuromuscular forms) Tags
Green Green List (high evidence)	GLA	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Fabry disease, 301500 Fabry disease, cardiac variant, 301500 Fabry Disease Tags
Green Green List (high evidence)	GLB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB MUCOPOLYSACCHARIDOSIS TYPE 4B Tags
Green Green List (high evidence)	GNPTAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta I-cell disease Tags
Green Green List (high evidence)	GUSB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Mucopolysaccharidosis VII, 253220 MPS VII (Sly syndrome) Hydrops fetalis Tags
Green Green List (high evidence)	HBA1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Thalassemias, alpha-, OMIM:604131 Fatal hydrops fetalis Hb Bart syndrome Tags monogenic-polygenic
Green Green List (high evidence)	HBA2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Thalassemias, alpha-, OMIM:604131 Fatal hydrops fetalis Hb Bart syndrome Tags monogenic-polygenic
Green Green List (high evidence)	HRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Costello syndrome Tags
Green Green List (high evidence)	KLF1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dyserythropoietic anemia, congenital, type IV, OMIM:613673 Hydrops Fetalis Tags
Green Green List (high evidence)	KMT2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Kabuki syndrome Tags
Green Green List (high evidence)	KRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome 3 Noonan syndrome Cardiofaciocutaneous syndrome 2 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome Tags
Green Green List (high evidence)	LARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Tags
Green Green List (high evidence)	LBR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Greenberg skeletal dysplasia, 215140 hydrops-ectopic calcification-moth-eaten skeletal dysplasia Tags
Green Green List (high evidence)	LIPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Wolman disease, 278000 Lysosomal Acid Lipase Deficiency Tags
Green Green List (high evidence)	LZTR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome 10, 616564 Tags
Green Green List (high evidence)	MAP2K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome LEOPARD syndrome ?Noonan syndrome Tags
Green Green List (high evidence)	MAP2K2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4 Cardio-Facio-Cutaneous syndrome type 4 Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome Tags
Green Green List (high evidence)	NEU1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Sialidosis, type I, 256550 Sialidosis, type II, 256550 Sialidosis fetal hydrops Hydrops fetalis (type II, congenital) Tags
Green Green List (high evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Literature Phenotypes Niemann-Pick disease, type C1, 257220 Niemann-Pick disease, type C NPC1 Tags
Green Green List (high evidence)	NRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome Noonan syndrome 6 Cardio-Facio-cutanenous syndrome CFC Syndrome Tags
Green Green List (high evidence)	PEX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger peroxisome biogenesis disorder 1A, 214100 Tags
Green Green List (high evidence)	PEX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger, peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 14B, 614920 Tags
Green Green List (high evidence)	PEX12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 3B, 266510 Peroxisome biogenesis disorder 3A (Zellweger), 614859 Tags
Green Green List (high evidence)	PEX13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger peroxisome biogenesis disorder 11A, 614883 Peroxisome biogenesis disorder 11B, 614885 Tags
Green Green List (high evidence)	PEX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger, peroxisome biogenesis disorder 13A Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green Green List (high evidence)	PEX16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 8B, 614877 Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Tags
Green Green List (high evidence)	PEX19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger, peroxisome biogenesis disorder 12A Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green Green List (high evidence)	PEX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 Tags
Green Green List (high evidence)	PEX26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 7B, 614873 Peroxisome biogenesis disorder 7A (Zellweger), 614872 Tags
Green Green List (high evidence)	PEX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger, peroxisome biogenesis disorder 10A Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 2B, 202370 Peroxisome biogenesis disorder 2A (Zellweger) , 214110 Tags
Green Green List (high evidence)	PEX6	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PEX7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 9B, 614879 Tags
Green Green List (high evidence)	PIEZO1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380 Lymphatic malformation 6, OMIM:616843 Congenital lymphatic dysplasia with hydrops and/or lymphoedema Tags
Green Green List (high evidence)	PKLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pyruvate kinase deficiency, OMIM:266200 Tags
Green Green List (high evidence)	PMM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Congenital disorder of glycosylation, type Ia, 212065 nonimmune hydrops fetalis CDG1A CDG 1a Tags
Green Green List (high evidence)	PTPN11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes LEOPARD syndrome LEOPARD syndrome 1 Noonan syndrome Noonan syndrome 1 Tags
Green Green List (high evidence)	RAF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome Noonan syndrome 5 LEOPARD syndrome LEOPARD syndrome 2 Tags
Green Green List (high evidence)	RIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome 8 Noonan syndrome type 8 Tags
Green Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan-like syndrome with loose anagen hair Tags
Green Green List (high evidence)	SLC17A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Sialic acid storage disorder, infantile, 269920 ISSD Hydrops fetalis Infantile sialic acid storage disease Tags
Green Green List (high evidence)	SMPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Literature Phenotypes Niemann-Pick disease, type A, 257200 Tags
Green Green List (high evidence)	SOS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome Noonan syndrome 4 Tags
Green Green List (high evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Phenotypes Noonan syndrome 9, 616559 Tags
Green Green List (high evidence)	TALDO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Transaldolase deficiency, 606003 Tags
Amber Amber List (moderate evidence)	ALG9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type II, MIM#608776 Tags
Amber Amber List (moderate evidence)	ANGPT2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphatic malformation 10 OMIM:619369 lymphatic malformation 10 MONDO:0023662 Tags
Amber Amber List (moderate evidence)	ATP1A2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes hydrops fetalis microcephaly arthrogryposis extensive cortical malformations Tags
Amber Amber List (moderate evidence)	EHBP1L1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes non-immune hydrops fetalis MONDO:0009369 Tags gene-checked
Amber Amber List (moderate evidence)	IDUA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Mucopolysaccharidosis Ih, 607014 Hurler syndrome, MPS I Tags
Amber Amber List (moderate evidence)	SLC30A5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perinatal lethal cardiomyopathy cardiomyopathy, MONDO:0004994 Tags watchlist
Red Red List (low evidence)	ALG1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Congenital disorder of glycosylation, type Ik, 608540 Hydrops fetalis, nonimmune Tags
Red Red List (low evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Smith-Lemli-Opitz syndrome, 270400 SLOS Tags
Red Red List (low evidence)	DMPK	3 reviews 1 green	Other	Sources Expert Review Red Other Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK_CTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Red Red List (low evidence)	EBP	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Chondrodysplasia punctata, X-linked dominant, 302960 Conradi Huenermann: Chondrodysplasia punctata Tags
Red Red List (low evidence)	FH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Fumarase deficiency, 606812 Citric-acid cycle defect Tags
Red Red List (low evidence)	GLE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Lethal congenital contracture syndrome 1, 253310 LCCS1 MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE Arthrogryposis, lethal, with anterior horn cell disease, 611890 Tags
Red Red List (low evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes LCHAD deficiency, 609016 Tags
Red Red List (low evidence)	HBZ	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes HEMOGLOBIN H HYDROPS FETALIS SYNDROME Tags
Red Red List (low evidence)	PSAT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neu-Laxova syndrome 2, MIM# 616038 Tags
Red Red List (low evidence)	SUMF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Multiple sulfatase deficiency, 272200 Tags
Red Red List (low evidence)	UROS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Porphyria, congenital erythropoietic, 263700 Congenital erythropoietic porphyria Gunther's disease Tags
No list No list	ALPK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290 Tags
No list No list	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290 Tags
No list No list	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290 Tags
No list No list	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Achondrogenesis, type II or hypochondrogenesis, MIM#200610 Tags
No list No list	DOK7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fetal akinesia sequence, MIM#618389 Tags
No list No list	FZD6	1 review 1 green	Unknown	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	G6PD	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	GATA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Phenotypes Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 Tags
No list No list	GLMN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	GPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	ITGA9	1 review 1 green	Unknown	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	KCNH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	KLHL40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
No list No list	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	MT-TE	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	MT-TL1	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 Tags
No list No list	MVK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mevalonic aciduria, OMIM:610377 Tags
No list No list	MYH7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Tags
No list No list	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	PTH1R	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes CHONDRODYSPLASIA, BLOMSTRAND TYPE BOCD Tags
No list No list	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Central core disease, MIM# 117000 Multiple pterygium syndrome Tags
No list No list	SCN5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	SLC4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	SPTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis Tags
No list No list	TAZ	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Phenotypes Barth syndrome, MIM#302060 Tags new-gene-name

Major version comments

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

Fetal hydrops (Version 1.64)

13 reviewers

112 Entities

112 reviewed, 61 green

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