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Gene: NIPAL4

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association. Reports across multiple unrelated families and individuals. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms, including fissures, digital contractures. Nail dystrophy, and scalp involvement with loss of eyebrows can also be present. 60% present as collodion babies. Congenital age of onset, severity of ichthyosis from moderate to severe.
Created: 11 Sep 2024, 4:39 a.m. | Last Modified: 11 Sep 2024, 4:39 a.m.
Panel Version: 1.287

Phenotypes
Ichthyosis, congenital, autosomal recessive 6 MIM#612281

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
OMIM
609383
Clinvar variants
Variants in NIPAL4
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NIPAL4 was added gene: NIPAL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)