GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PROKR2 A51Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
PROKR2 R85Hinsufficiently evaluated pathogenicunknown

(21 web hits)

PROKR2 L173Rpathogenicrecessive

Reported to cause Kallman Syndrome (delayed or absent puberty) in a recessive manner – and potentially when heterozygous, in combination with harmful variants in another gene. This comes from Dodé et al 2006 (PMID: 17054399) where it was seen in 6 of 192 cases (once homozygously) and is recorded in ClinVar by OMIM. ExAC data indicates 1 in 145 with European ancestry carry this variant, and ~1 in 80,000 are homozygous. This potentially contradicts the proposed effect. The frequency is only slightly lower than the prevalence of the syndrome – and over a dozen genes implicated as causal for this gene. If this variant were causal, it should account for a large fraction of cases and be well-established.

(38 web hits)

PROKR2 W178Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
PROKR2 Q210Rinsufficiently evaluated pathogenicunknown

(11 web hits)

PROKR2 R268Cinsufficiently evaluated none, f=0.016unknown

(23 web hits)

var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
PROKR2 M323Iinsufficiently evaluated pathogenicunknown

(11 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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