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Prepair 1000+

Gene: SURF1

Green List (high evidence)

SURF1 (SURF1, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 is the appropriate term to use.
Created: 22 Aug 2024, 2:09 a.m. | Last Modified: 22 Aug 2024, 2:09 a.m.
Panel Version: 1.234

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Consider most appropriate name- literature commonly refers to as Leigh syndrome but MIM 256000 doesn't have SURF1 attached to it. No overarching MONDO. Maybe MItochondrial complex IV deficiency MIM220110 is the most appropriate
Created: 13 Aug 2024, 4:27 a.m. | Last Modified: 13 Aug 2024, 4:27 a.m.
Panel Version: 1.147

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, variable age, multi-system disorder characterised by rapidly progressive neurodegeneration and encephalopathy
Created: 30 Jul 2024, 7:31 a.m. | Last Modified: 30 Jul 2024, 7:31 a.m.
Panel Version: 1.65
Established gene-disease association.

Childhood onset, variable age, multi-system disorder characterised by rapidly progressive neurodegeneration and encephalopathy
Created: 30 Jul 2024, 7:31 a.m. | Last Modified: 30 Jul 2024, 7:31 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110

Publications

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: surf1 has been classified as Green List (High Evidence).

22 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: surf1 has been classified as Green List (High Evidence).

13 Aug 2024, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: SURF1.

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SURF1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leigh syndrome, due to COX deficiency, 256000 (3) for gene: SURF1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SURF1 was added gene: SURF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)