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  2. Central Hypoventilation
  3. GDNF
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Central Hypoventilation

Gene: GDNF

Red List (low evidence)
GDNF (glial cell derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000168621
EnsemblGeneIds (GRCh37): ENSG00000168621
OMIM: 600837, Gene2Phenotype
GDNF is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find reports establishing gene-disease association.
Created: 30 Oct 2020, 10:46 p.m. | Last Modified: 30 Oct 2020, 10:46 p.m.
Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, MIM# 209880

Created: 30 Oct 2020, 10:46 p.m.
Last Modified: 30 Oct 2020, 10:46 p.m.
Panel version: 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, MIM# 209880
OMIM
600837
Clinvar variants
Variants in GDNF
Penetrance
None
Panels with this gene

History Filter Activity

30 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdnf has been classified as Red List (Low Evidence).

30 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GDNF were changed from to Central hypoventilation syndrome, MIM# 209880

30 Oct 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdnf has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDNF was added gene: GDNF was added to Central Hypoventilation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GDNF was set to Unknown