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

More than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.
Panel Activity

3 reviewers

  • Tegan French (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

11 Entities

11 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
KCNK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
  • developmental delay with sleep apnoea (DDSA)
Tags
Green Green List (high evidence)
PHOX2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
  • 614707
Tags
Green Green List (high evidence)
SLC52A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Tags
Amber Amber List (moderate evidence)
ASCL1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
Tags
Amber Amber List (moderate evidence)
LBX1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Central hypoventilation syndrome, congenital, 3, MIM#619483
Tags
Red Red List (low evidence)
BDNF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM#209880
Tags
  • refuted
Red Red List (low evidence)
EDN3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
Tags
  • disputed
Red Red List (low evidence)
GDNF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, MIM# 209880
Tags
Red Red List (low evidence)
MYO1H
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482
Tags
Red Red List (low evidence)
RET
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM#209880
Tags

Major version comments

Downloads

Download lists

Download Version