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Intellectual disability syndromic and non-syndromic

Gene: MTPAP

Red List (low evidence)

MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

ID not part of the neurological condition.
Created: 5 Dec 2019, 2:11 a.m. | Last Modified: 5 Dec 2019, 2:11 a.m.
Panel Version: 0.454

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic ataxia 4, autosomal recessive; OMIM#613672

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive
  • OMIM#613672
OMIM
613669
Clinvar variants
Variants in MTPAP
Penetrance
None
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

5 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MTPAP. Source Expert list was added to MTPAP. Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTPAP was added gene: MTPAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTPAP was set to Unknown