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Confirmed Fanconi anaemia or Bloom syndrome v2.14 XRCC2 Ida Ertmanska changed review comment from: PMID: 42071175 Cenciarelli et al., 2026
2 related adult individuals (19yo female and 20yo male) from a consanguineous Egyptian family, homozygous for XRCC2 p.(Arg215Ter). Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected. Diagnosed with 'Fanconi anemia-like disorder' without major hematological manifestations.

PMID: 30237576 Maddirevula et al., 2019
Report of a 3 years old Saudi girl, homozygous for XRCC2 c.643C>T:p.(Arg215*), diagnosed with XRCC2-related Fanconi anemia. At birth, she was noted to have borderline microcephaly (OFC was 33 cm); also noted to have bilateral hypoplastic thumb, multiple café late spots, strabismus, and dysmorphic facial features. She developed failure to thrive with progressive microcephaly (at age of 3 years, head circumference was 45 cm. Investigation showed pancytopenia. Chromosomal breakage was 100%. Brain MRI at 3 months of age was unremarkable.
Her parents are second cousins. Sister was similarly affected, died of respiratory failure and pancytopenia.

XRCC2 is putatively associated with Fanconi anemia, complementation group U, OMIM:617247. The gene-disease relationship was classified as Limited by ClinGen Hereditary Cancer GCEP in 2023.; to: PMID: 42071175 Cenciarelli et al., 2026
2 related adult individuals (19yo female and 20yo male) from a consanguineous Egyptian family, homozygous for XRCC2 p.(Arg215Ter). Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected. Diagnosed with 'Fanconi anemia-like disorder' without major hematological manifestations.

PMID: 30237576 Maddirevula et al., 2019
Report of a 3 years old Saudi girl, homozygous for XRCC2 c.643C>T:p.(Arg215*), diagnosed with XRCC2-related Fanconi anemia. At birth, she was noted to have borderline microcephaly (OFC was 33 cm); also noted to have bilateral hypoplastic thumb, multiple café late spots, strabismus, and dysmorphic facial features. She developed failure to thrive with progressive microcephaly (at age of 3 years, head circumference was 45 cm. Investigation showed pancytopenia. Chromosomal breakage was 100%. Brain MRI at 3 months of age was unremarkable.
Her parents are second cousins. Sister was similarly affected, died of respiratory failure and pancytopenia.

XRCC2 is putatively associated with AR Fanconi anemia, complementation group U, OMIM:617247 (accessed 8th May 2026). The gene-disease relationship was classified as Limited by ClinGen Hereditary Cancer GCEP in 2023.
Confirmed Fanconi anaemia or Bloom syndrome v2.14 XRCC2 Ida Ertmanska Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v2.14 XRCC2 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals with biallelic XRCC2 variants and Fanconi anaemia. All reported patients were homozygous for a recurrent p.(Arg215Ter) variant. Functional evidence is supportive of this gene-disease association. Hence, this gene should be promoted at the next GMS update.
Confirmed Fanconi anaemia or Bloom syndrome v2.14 XRCC2 Ida Ertmanska Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v2.13 XRCC2 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: XRCC2.
Confirmed Fanconi anaemia or Bloom syndrome v2.13 XRCC2 Ida Ertmanska changed review comment from: PMID: 42071175 Cenciarelli et al., 2026
2 related adult individuals (19yo female and 20yo male) from a consanguineous Egyptian family, homozygous for XRCC2 p.(Arg215Ter). Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected. Diagnosed with 'Fanconi anemia-like disorder' without major hematological manifestations.

XRCC2 is putatively associated with Fanconi anemia, complementation group U, OMIM:617247. The gene-disease relationship was classified as Limited by ClinGen Hereditary Cancer GCEP in 2023.; to: PMID: 42071175 Cenciarelli et al., 2026
2 related adult individuals (19yo female and 20yo male) from a consanguineous Egyptian family, homozygous for XRCC2 p.(Arg215Ter). Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected. Diagnosed with 'Fanconi anemia-like disorder' without major hematological manifestations.

PMID: 30237576 Maddirevula et al., 2019
Report of a 3 years old Saudi girl, homozygous for XRCC2 c.643C>T:p.(Arg215*), diagnosed with XRCC2-related Fanconi anemia. At birth, she was noted to have borderline microcephaly (OFC was 33 cm); also noted to have bilateral hypoplastic thumb, multiple café late spots, strabismus, and dysmorphic facial features. She developed failure to thrive with progressive microcephaly (at age of 3 years, head circumference was 45 cm. Investigation showed pancytopenia. Chromosomal breakage was 100%. Brain MRI at 3 months of age was unremarkable.
Her parents are second cousins. Sister was similarly affected, died of respiratory failure and pancytopenia.

XRCC2 is putatively associated with Fanconi anemia, complementation group U, OMIM:617247. The gene-disease relationship was classified as Limited by ClinGen Hereditary Cancer GCEP in 2023.
Confirmed Fanconi anaemia or Bloom syndrome v2.13 XRCC2 Ida Ertmanska reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 42071175; Phenotypes: ?Fanconi anemia, complementation group U, OMIM:617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v1.11 XRCC2 Arina Puzriakova Phenotypes for gene: XRCC2 were changed from 617247 ?Fanconi anemia, complementation group U to ?Fanconi anemia, complementation group U, OMIM:617247; Fanconi anemia complementation group U, MONDO:0014987
Confirmed Fanconi anaemia or Bloom syndrome v1.10 XRCC2 Arina Puzriakova Publications for gene: XRCC2 were set to
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Added comment: Comment on list classification: Single FA-U patient in literature at present but with supportive functional data. Additional published cases required to confirm pathogenicity and support inclusion of XRCC2 on a diagnostic FA panel.
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v1.5 XRCC2 Tom Cullup reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22232082, 27208205; Phenotypes: Fanconi anaemia complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.21 XRCC2 Louise Daugherty Classified gene: XRCC2 as Red List (low evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.21 XRCC2 Louise Daugherty Gene: xrcc2 has been classified as Red List (Low Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.20 XRCC2 Mandy nesbitt edited their review of gene: XRCC2: Changed rating: RED
Confirmed Fanconi anaemia or Bloom syndrome v0.15 XRCC2 Louise Daugherty Mode of inheritance for gene: XRCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.11 XRCC2 Louise Daugherty reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.10 XRCC2 Mandy nesbitt reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617247 ?Fanconi anemia, complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.9 XRCC2 Louise Daugherty Added phenotypes 617247 ?Fanconi anemia, complementation group U for gene: XRCC2
Confirmed Fanconi anaemia or Bloom syndrome v0.8 XRCC2 Louise Daugherty Source NHS GMS was added to XRCC2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 XRCC2 Louise Daugherty gene: XRCC2 was added
gene: XRCC2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: XRCC2 was set to