Ectodermal dysplasia

Gene: NIPAL4

Red List (low evidence)

NIPAL4 (NIPA like domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000172548
EnsemblGeneIds (GRCh37): ENSG00000172548
OMIM: 609383, Gene2Phenotype
NIPAL4 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of NIPAL4.
Created: 13 Jul 2017, 1:54 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 6, 612281
Clinvar variants
Variants in NIPAL4
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NIPAL4 was added gene: NIPAL4 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 6, 612281