NIPAL4

NIPA like domain containing 4
OMIM: 609383, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red NIPAL4 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 Some affected persons exhibit scarring alopecia Lamellar ichthyosis
Green NIPAL4 in Autosomal recessive congenital ichthyosis Level 3: Ichthyoses Level 2: Dermatological disorders Version 1.14	review	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
Green NIPAL4 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Red NIPAL4 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 6, 612281
Green NIPAL4 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Autosomal recessive congenital ichthyosis
Green NIPAL4 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ichthyosis, congenital, autosomal recessive 6, OMIM:612281 Autosomal recessive congenital ichthyosis 6, MONDO:0012847
Green NIPAL4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281