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  3. BANF1
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Lipodystrophy_Lipoatrophy

Gene: BANF1

Amber List (moderate evidence)
BANF1 (barrier to autointegration factor 1)
EnsemblGeneIds (GRCh38): ENSG00000175334
EnsemblGeneIds (GRCh37): ENSG00000175334
OMIM: 603811, Gene2Phenotype
BANF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two Spanish families reported but likely founder effect. One additional family. Lipoatrophy reported.
Created: 26 Feb 2021, 10:14 a.m. | Last Modified: 26 Feb 2021, 10:14 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nestor-Guillermo progeria syndrome, MIM# 614008

Publications

Created: 26 Feb 2021, 10:14 a.m.
Last Modified: 26 Feb 2021, 10:14 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nestor-Guillermo progeria syndrome, MIM# 614008
OMIM
603811
Clinvar variants
Variants in BANF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: banf1 has been classified as Amber List (Moderate Evidence).

26 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008

26 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BANF1 were set to

26 Feb 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

26 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: banf1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BANF1 was added gene: BANF1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BANF1 was set to Unknown