INF2

inverted formin, FH2 and WH2 domain containing
OMIM: 610982, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red INF2 in Atypical haemolytic uraemic syndrome Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Glomerulosclerosis, focal segmental, 5, 613237
Green INF2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Eligibility statement prior genetic testing Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E 614455 Glomerulosclerosis, focal segmental, 5 613237
Green INF2 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 5 613237 Charcot-Marie-Tooth disease, dominant intermediate E 614455
Green INF2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455
Red INF2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455
Green INF2 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 5 #613237 Adult onset nephrotic syndrome (+CMT) FSGS proteinuria renal failure
Green INF2 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert review green Literature Phenotypes Glomerulosclerosis focal segmental 5 Nephropathy of unknown origin Hypertensive nephropathy Glomerulopathy MIM 613237
Green INF2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Expert list London North GLH NHS GMS NHS GMS London North GLH Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455
Green INF2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Glomerulosclerosis, focal segmental, 5, 613237