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  2. Liver Failure_Paediatric
  3. GFM1
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Liver Failure_Paediatric

Gene: GFM1

Green List (high evidence)
GFM1 (G elongation factor mitochondrial 1)
EnsemblGeneIds (GRCh38): ENSG00000168827
EnsemblGeneIds (GRCh37): ENSG00000168827
OMIM: 606639, Gene2Phenotype
GFM1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multi-system mitochondrial disorder, predominantly neurological features with or without hepatic involvement. Liver failure reported.
Sources: Expert list
Created: 1 Nov 2020, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 1, MIM# 609060

Publications

Created: 1 Nov 2020, 11:08 a.m.

Panel version: 0.56

History Filter Activity

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfm1 has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfm1 has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GFM1 was added gene: GFM1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFM1 were set to 31680380; 23430926 Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, MIM# 609060 Review for gene: GFM1 was set to GREEN