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Mendeliome

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

PMID 35982159: Single individual reported with a de novo variant, p.Ala87Thr, and a neurodevelopmental disorder.

PMID 36980188: Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Created: 6 Apr 2024, 7:28 a.m. | Last Modified: 6 Apr 2024, 7:28 a.m.
Panel Version: 1.1680
Bi-allelic disease: Two Spanish families reported with progeria but likely founder effect. One additional family. Lipoatrophy reported.
Created: 26 Feb 2021, 10:17 a.m. | Last Modified: 6 Apr 2024, 7:29 a.m.
Panel Version: 1.1680

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nestor-Guillermo progeria syndrome, MIM# 614008; Neurodevelopmental disorder, MONDO:0700092, BANF1-related; Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nestor-Guillermo progeria syndrome, MIM# 614008
  • Neurodevelopmental disorder, MONDO:0700092, BANF1-related
  • Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
OMIM
603811
Clinvar variants
Variants in BANF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BANF1 were changed from Nestor-Guillermo progeria syndrome, MIM# 614008 to Nestor-Guillermo progeria syndrome, MIM# 614008; Neurodevelopmental disorder, MONDO:0700092, BANF1-related; Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related

6 Apr 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BANF1 were set to 32783369; 21549337

6 Apr 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BANF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and 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).

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