All individuals with variants in gene SRP54

26 entries on 1 page. Showing entries 1 - 26.
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00372004 FamA PubMed: Carapito 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white - - - - SCN see paper; ... 1 1 Johan den Dunnen
00372005 FamB PubMed: Carapito 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - SCN see paper; ... 1 1 Johan den Dunnen
00372006 FamC PubMed: Carapito 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Hispanic - - - - SCN see paper; ... 1 1 Johan den Dunnen
00372007 Fam1Pat1 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 270 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372008 Fam2Pat2 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 443 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372009 Fam3Pat3 PubMed: Bellanne-Chantelot 2018 2-generation family, affected father/daughter F - France - - - - - SCN see paper; ..., 440 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 2 Johan den Dunnen
00372010 Fam3Pat4 PubMed: Bellanne-Chantelot 2018 father M - France - - - - - SCN see paper; ..., 100 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372011 Fam4Pat5 PubMed: Bellanne-Chantelot 2018 - M - France - - - - - SCN see paper; ..., 190 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; intellectual disability, autism spectrum disorder (father with severe neuropsychiatric disorder); no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372012 Fam5Pat6 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 530 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; 31y-osteoporosis, type 2 diabetes 1 1 Johan den Dunnen
00372013 Fam6Pat7 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 45 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372014 Fam7Pat8 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - SCN see paper; ..., 120 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372015 Fam8Pat9 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 250 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; intra-uterine growth retardation, GH deficiency, GH therapy (final height 1.69 m) 1 1 Johan den Dunnen
00372016 Fam9Pat10 PubMed: Bellanne-Chantelot 2018 - M - France - - - - - SCN see paper; ..., 230 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372017 Fam10Pat11 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 360 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372018 Fam11Pat12 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 90 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372019 Fam12Pat13 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - SCN see paper; ..., 100 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372020 Fam13Pat14 PubMed: Bellanne-Chantelot 2018 2-generation family, 2 affected M - France - - - - - SCN see paper; ..., 110 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 2 Johan den Dunnen
00372021 Fam13Pat15 PubMed: Bellanne-Chantelot 2018 - F - France - - - - - SCN see paper; ..., 345 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372022 Fam14Pat16 PubMed: Bellanne-Chantelot 2018 2-generation family, affected father/2 sons F - France - - - - - SCN see paper; ..., 435 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 3 Johan den Dunnen
00372023 Fam14Pat17 PubMed: Bellanne-Chantelot 2018 father M - France - - - - - SCN see paper; ..., 960 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; learning difficulties, attending special school; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372024 Fam14Pat18 PubMed: Bellanne-Chantelot 2018 brother M - France - - - - - SCN see paper; ..., 1090 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; no stomatitis gingivitis; no maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; learning difficulties, attending special school; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372025 Fam15Pat19 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - SCN see paper; ..., 215 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372026 Fam16Pat20 PubMed: Bellanne-Chantelot 2018 - F - France - - - - - SCN see paper; ..., 144 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, dysmorphy; no exocrine pancreatic insufficiency; short stature (final height1.48 m), obesity 1 1 Johan den Dunnen
00372027 Fam17Pat21 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 106 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation 1 1 Johan den Dunnen
00372028 Fam18Pat22 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 220 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, epilepsy; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms 1 1 Johan den Dunnen
00372029 Fam19Pat23 PubMed: Bellanne-Chantelot 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - SCN see paper; ..., 92 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation, short stature (final height 1.53 m), bone dysplasia 1 1 Johan den Dunnen
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