BANF1

barrier to autointegration factor 1
OMIM: 603811, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber BANF1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nestor-Guillermo progeria syndrome, MIM# 614008
Amber BANF1 in Mendeliome Version 1.3512	1 review	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
Red BANF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BANF1-related
Red BANF1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Nestor-Guillermo progeria syndrome 614008
Red BANF1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Red BANF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Progeroid syndrome
Red BANF1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nestor-Guillermo progeria syndrome, MIM# 614008
Red BANF1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progeroid syndrome