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Central Hypoventilation (Version 1.5)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Central hypoventilation HP:0007110
Panel types: Victorian Clinical Genetics Services, Rare Disease
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 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 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 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 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 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 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 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 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 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 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 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

  • 2021-01-04 02:55 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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