Ataxia - paediatric
Gene: MTTP
MTTP (microsomal triglyceride transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 14 May 2022, 8:06 a.m. | Last Modified: 14 May 2022, 8:06 a.m.
Panel Version: 0.14288
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinaemia, MIM# 200100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Abetalipoproteinemia, 200100
- Abetalipoproteinemia
- Tags
- OMIM
- 157147
- Clinvar variants
- Variants in MTTP
- Penetrance
- None
- Panels with this gene
-
- Dyslipidaemia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Transplant Co-Morbidity Superpanel
- Congenital Diarrhoea
History Filter Activity
6 Oct 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: MTTP.
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MTTP was added gene: MTTP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; Abetalipoproteinemia