Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1182312612
rs1182312612
PNPLA1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs1554138062
rs1554138062
PNPLA1
C 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs369445146
rs369445146
PNPLA1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs781053760
rs781053760
PNPLA1
C 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs1554162524
rs1554162524
ELOVL4
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569044747
rs1569044747
IL2RB
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514532
rs397514532
ALOX12B
A 0.700 CausalMutation CLINVAR

dbSNP: rs531650682
rs531650682
TGM1
0.010 GeneticVariation BEFREE We found 1 novel TGM1 indel mutation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been previously reported in BSI: 5 have been previously described in non-temperature-sensitive forms of congenital ichthyosis (Arg143Cys, Gly218Ser, Gly278Arg, Arg286Gln, and Ser358Arg), and 3 (Tyr374Cys, Phe495Leu, and Ser772Arg) are novel mutations. 28403434

2017
dbSNP: rs757658720
rs757658720
TGM1
0.010 GeneticVariation BEFREE We found 1 novel TGM1 indel mutation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been previously reported in BSI: 5 have been previously described in non-temperature-sensitive forms of congenital ichthyosis (Arg143Cys, Gly218Ser, Gly278Arg, Arg286Gln, and Ser358Arg), and 3 (Tyr374Cys, Phe495Leu, and Ser772Arg) are novel mutations. 28403434

2017
dbSNP: rs318240748
rs318240748
TGM1
0.010 GeneticVariation BEFREE Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. 25180191

2014
dbSNP: rs35312232
rs35312232
TGM1
0.010 GeneticVariation BEFREE These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient patients, showing that the CIE phenotype, when attributable to a V518M heterozygous mutation in TGM1 in combination with an inactive allele, confers a cross-linking deficiency in a variety of keratinizing epithelia, as previously shown for TGM1-negative LI. 16133457

2005