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.

7 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

68 Entities

68 reviewed, 54 green

List Entity Reviews Mode of inheritance Details
68 Entitiess
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, 235510
  • generalised lymphatic dysplasia
  • fetal hydrops
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)
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
1 review
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
1 review
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
Green Green List (high evidence)
GBE1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Glycogen storage disease IV, 232500
  • GSD4
  • Fetal hydrops (in perinatal or congenital neuromuscular forms)
  • Andersen disease
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
1 review
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
2 reviews
1 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
  • HYDROPS FETALIS, NONIMMUNE, 236750
  • NIHF
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED
  • Hemoglobin H disease, nondeletional, 613978
  • Hb H disease
  • HEMOGLOBIN H HYDROPS FETALIS SYNDROME
  • Thalassemia, alpha-, 604131
  • Alpha thalassaemia
  • alpha thalassaemia major
  • Hb Bart's
Tags
  • monogenic-polygenic
Green Green List (high evidence)
HBA2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • HYDROPS FETALIS, NONIMMUNE, 236750
  • NIHF
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED
  • Hemoglobin H disease, nondeletional, 613978
  • HEMOGLOBIN H HYDROPS FETALIS SYNDROME
  • Thalassemia, alpha-, 604131
  • Alpha thalassaemia
  • Hb H disease
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
  • hydrops fetalis due to congenital dyserythropoietic anemia (CDA)
  • hydrops fetalis-associated anemia
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)
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Zellweger, peroxisome biogenesis disorder 4A, 4B
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 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
  • Lymphedema, hereditary, III, 616843
  • LMPH3
  • Hereditary lymphoedema type III
  • 2nd trimester fetal hydrops, Nuchal translucency likely to be normal, Lethal and non lethal cases within the same family
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
1 review
1 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
1 review
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)
IDUA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Mucopolysaccharidosis Ih, 607014
  • Hurler syndrome, MPS I
Tags
Red Red List (low evidence)
AHCY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
  • S-adenosylhomocysteine hydrolase deficiency
  • AHCY deficiency
Tags
Red Red List (low evidence)
ALG1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type Ik, 608540
  • Hydrops fetalis, nonimmune
Tags
Red Red List (low evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • SLOS
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myotonic dystrophy 1, 160900
  • DM1
  • Myotonic dystrophy, congenital onset associated with a high triplet repeat number
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 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)
LARS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021
  • HLASA
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

Major version comments

Downloads

Download lists

Download Version