PanelApp
  1. Panels
  2. Hirschsprung disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

8 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

15 Entities

10 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
EDN3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
  • Waardenburg syndrome, type 4B, MIM# 613265
  • {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Tags
Green Green List (high evidence)
EDNRB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERBB3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
  • Complex neurocristinopathy
Tags
Green Green List (high evidence)
KIF1BP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KIF26A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PHOX2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PHOX2B_CCHS_GCN
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Tags
  • paediatric-onset
Green Green List (high evidence)
RET
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple endocrine neoplasia IIA, MIM# 171400
  • Hirschsprung disease
Tags
Green Green List (high evidence)
SMO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, congenital heart disease, polydactyly, aganglionosis
  • Pallister-Hall-like syndrome , MIM#241800
Tags
Green Green List (high evidence)
SOX10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ZEB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mowat-Wilson syndrome, MIM# 235730
  • MONDO:0009341
Tags
  • SV/CNV
Red Red List (low evidence)
ECE1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Tags
Red Red List (low evidence)
EMB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease - MONDO:0018309, EMB-related
Tags
Red Red List (low evidence)
PMEL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cculocutaneous albinism, PMEL-related MONDO:0018910
Tags

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