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Cerebellar hypoplasia

Gene: AMPD2

Green List (high evidence)
AMPD2 (adenosine monophosphate deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Confirmed DD gene on G2P. Offered as diagnostic test on UKGTN. Mutations identified in at least 6 families
Created: 3 Nov 2016, 9:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerebellar hypoplasia type 9, 615809

Publications

Created: 3 Nov 2016, 9:58 a.m.

Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • UKGTN
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • pontocerebellar hypoplasia type 9, 615809
OMIM
102771
Clinvar variants
Variants in AMPD2
Penetrance
Complete
Publications
  • Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809
  • Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809
  • 27066553
  • 23911318
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

21 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for AMPD2 were set to pontocerebellar hypoplasia type 9, 615809

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for AMPD2 were set to Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809 ; Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809 ; 27066553; 23911318

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other,UKGTN,Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 2

clearsources

Ellen McDonagh (Genomics England Curator)

AMPD2All sources for gene: AMPD2 were removed

11 May 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other,UKGTN,Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AMPD2 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AMPD2 was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

AMPD2 was created by helen.savage