PanelApp (test)
  1. Panels
  2. Hydrops fetalis
Description
This panel was developed and is maintained by VCGS.

This panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.
Panel Activity

10 reviewers

  • Sue White (Victorian Clinical Genetics Services)

  • Tegan French (Victorian Clinical Genetics Services)

  • George McGillivray (Victorian Clinical Genetics Services)

  • Abhijit Kulkarni (Healius Pathology)

  • Di Milnes (Genetic Health Queensland)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

43 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
43 Entitiess
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)
NEXN
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261
Tags
Green Green List (high evidence)
PEX11B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX26
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)
TAFAZZIN
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 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

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