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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. NFIA
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: NFIA

Green List (high evidence)
NFIA (nuclear factor I A)
EnsemblGeneIds (GRCh38): ENSG00000162599
EnsemblGeneIds (GRCh37): ENSG00000162599
OMIM: 600727, Gene2Phenotype
NFIA is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Expert Review
Created: 23 Mar 2022, 6:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain malformations with or without urinary tract defects - MIM#613735

Publications

Created: 23 Mar 2022, 6:01 a.m.

Panel version: 0.108

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Created: 23 Mar 2022, 2 a.m. | Last Modified: 23 Mar 2022, 2 a.m.
Panel Version: 0.11792

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain malformations with or without urinary tract defects - MIM#613735

Publications

Created: 23 Mar 2022, 2 a.m.
Last Modified: 23 Mar 2022, 2 a.m.
Panel version: Imported from Mendeliome panel version 0.11792

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Brain malformations with or without urinary tract defects - MIM#613735
OMIM
600727
Clinvar variants
Variants in NFIA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfia has been classified as Green List (High Evidence).

23 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfia has been classified as Green List (High Evidence).

23 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NFIA was added gene: NFIA was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIA were set to 35018717; 33973697; 32926563 Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735 Review for gene: NFIA was set to GREEN