Autosomal recessive congenital ichthyosis

Gene: NIPAL4

Green List (high evidence)

NIPAL4 (NIPA like domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000172548
EnsemblGeneIds (GRCh37): ENSG00000172548
OMIM: 609383, Gene2Phenotype
NIPAL4 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Four variants reported.
Created: 8 Jun 2016, 8:34 a.m.

John McGrath (King's College London)

Green List (high evidence)

Most cases can be explained by 6 genes, indeed nearly 80% have mutations in these genes which clearly have type 3 supportive evidence. Based on studies of >500 patients the breakdown is usually as follows: TGM1 (32%), NIPAL4 (16%), ALOX12B (12%), CYP4F22 (8%), ABCA12 (5%), ALOXE3 (5%) . which leaves 22% split among some of the others or unknown.
Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARCI 6; Ichthyosis, congenital, autosomal recessive 6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, 612281
OMIM
609383
Clinvar variants
Variants in NIPAL4
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281

26 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: UKGTN

26 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services

26 Oct 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal

26 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing

26 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NIPAL4 was created by ellenmcdonagh