381del (p.Gln123fs) AND Kostmann syndrome

Abdollahpour H， this variant has been classified as Pathogenic. #SampleMethodObservation OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences 1 germline unknown not provided not provided not provided not provided not provided not provided not provided ， Carlsson G， Rezaei N， Welte K. Nat Genet. 2007 Jan;39(1):86-92. Epub 2006 Dec 24. PubMed [citation] PMID: 17187068 Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Germeshausen M。

Schwinzer B， Klein C. Blood. 2008 May 15;111(10):4954-7. doi: 10.1182/blood-2007-11-120667. Epub 2008 Mar 12. PubMed [citation] PMID: 18337561 See all PubMed Citations (3) Details of each submission From Invitae。

Henter JI， Zeidler C， SCV002216182.1 #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations 1 not provided not provided not provided not provided clinical testing PubMed (3) Description This sequence change creates a premature translational stop signal (p.Gln123Leufs*4) in the HAX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HAX1 are known to be pathogenic (PMID: 17187068). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of congenital neutropenia (PMID: 18337561). For these reasons， Grimbacher B， Schäffer AA。

Zeidler C， Rezaei N， Grudzien M， Boztug K， Appaswamy G， Germeshausen M， Dahl N， Ballmaier M， Sandrock I， Rathinam C， Grudzien M， Grimbacher B。

Fadeel B，。

Welte K， Palmblad J， Summary from all submissionsEthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod not provided germline unknown not provided not provided not provided not provided not provided clinical testing Citations PubMed HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Klein C， Melin M， Bohn G， Yetgin S。