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Fetal anomalies

Gene: BANF1

Red List (low 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)

Red List (low evidence)

Three families reported, but two shared the same variant, likely founder effect.

Progressive disorder with onset of symptoms and signs in childhood.
Created: 6 Dec 2021, 9:54 p.m. | Last Modified: 6 Dec 2021, 9:54 p.m.
Panel Version: 0.1109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nestor-Guillermo progeria syndrome, MIM# 614008

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Nestor-Guillermo progeria syndrome, MIM# 614008
OMIM
603811
Clinvar variants
Variants in BANF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: banf1 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BANF1 were set to

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: banf1 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BANF1 was added gene: BANF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME