GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BTD G34Sinsufficiently evaluated pathogenic, f=0.000recessive

(24 web hits)

BTD I68Vinsufficiently evaluated not reviewed, f=0.008recessive var-GS18501-1100-36-ASM
CGI sample GS000006909
var-GS19238-1100-36-ASM
BTD R79Cinsufficiently evaluated pathogenicrecessive

(15 web hits)

BTD A171Tlikely pathogenic, f=0.000recessive

This variant, which has always been reported as occurring with the D444H variant, is implicated in causing biotinidase deficiency. The double-mutant appears to abolish enzyme activity, but there is a report of homozygous asymptomatic adults with profound biotinidase deficiency (symptoms may depend on additional factors). This double-variant (A171T and D444H) has been observed to cause deficiency in a compound heterozygous fashion when paired with another, more severe mutation.

(39 web hits)

BTD R211Hinsufficiently evaluated not reviewedrecessive
BTD D252Ginsufficiently evaluated pathogenicrecessive

Biotinidase Deficiency

(9 web hits)

BTD P391Sinsufficiently evaluated not reviewed, f=0.017recessive CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_C01_200_37
BTD F403Vinsufficiently evaluated not reviewedrecessive

(14 web hits)

BTD Y414Shiftinsufficiently evaluated not reviewedrecessive

The BTD-Y414Shift allele is a private allele discovered in the genome of PGP89, resulting from the addition of the sequence AAGG to a position in the genome with the sequence AAGGAAGG. It is expected to cause a complete loss of function of biotinidase. Biotinidase deficiency is typically identified as multiple carboxylase deficiency (MCD) by newborn screening and is easily treated with biotin supplementation.

CGI sample GS01669-DNA_B05 from PGP sample 86486261
BTD D444Huncertain pathogenic, f=0.030recessive

This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.

(57 web hits)

hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS07357-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
BTD Q456Hinsufficiently evaluated pathogenic, f=0.001recessive

Biotinidase Deficiency

(31 web hits)

BTD H485Qinsufficiently evaluated not reviewed, f=0.008recessive var-GS19703-1100-36-ASM
BTD N489Tinsufficiently evaluated pathogenicrecessive

(7 web hits)

BTD L530Vinsufficiently evaluated not reviewedrecessive CGI sample GS01669-DNA_A04 from PGP sample 08188426
BTD T532Minsufficiently evaluated pathogenic, f=0.000recessive

(1 web hit)

BTD R538Cinsufficiently evaluated pathogenicrecessive

Biotinidase Deficiency

(30 web hits)

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Total results: 16

Gene search

"GENE" or "GENE A123C":

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