All individuals with variants in gene PRKAR1A

61 entries on 1 page. Showing entries 1 - 61.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, BMD/DMD, CF - 1 1 LOVD-team, but with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 2 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 2 1 LOVD-team, but with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - 0 - - epilepsy - 1 1 LOVD-team, but with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00036580 - - - - - Germany - - 0 - - ? myxoma (HP:0011672) large left atrial, abnormal skin pigmentation (HP:0001000) 1 1 Andreas Laner
00036581 - - - - - Germany - - 0 - - CNC-1 suspected Carney complex 1 1 Andreas Laner
00079988 - PubMed: Elli et al.2016 - F no (Bosnia and Herzegovina) - - 0 - - ACRDYS-1 advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis 1 1 Francesca Marta Elli
00079989 - PubMed: Elli et al.2016 - M no (Italy) - - 0 - - ACRDYS-1 IUGR, neonatal hypoglycemia, enamel dysplasia 1 1 Francesca Marta Elli
00079990 - PubMed: Elli et al.2016 - M no (Italy) - - 0 - - ACRDYS-1 IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines 1 1 Francesca Marta Elli
00080137 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots 1 1 Francesca Marta Elli
00080148 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - BD-E1 Short stature, short IV metacarpal and distal phalanx of the thumb (I) 1 1 Francesca Marta Elli
00080149 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck 1 1 Francesca Marta Elli
00080150 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080151 - PubMed: Muhn et al.2013 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance 1 1 Francesca Marta Elli
00080152 - PubMed: Nagasaki et al.2012 - F no (Japan) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080154 - PubMed: Li et al.2014 - F no (China) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily 1 1 Francesca Marta Elli
00080163 - PubMed: Michot et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080164 - PubMed: Michot et al - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080165 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080166 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080167 - PubMed: Lee et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis 1 1 Francesca Marta Elli
00080168 - PubMed: Lee et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, mental retardation 1 1 Francesca Marta Elli
00080174 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080175 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit 1 1 Francesca Marta Elli
00080176 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily 1 1 Francesca Marta Elli
00080179 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080180 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age 1 1 Francesca Marta Elli
00080691 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080692 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080693 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080694 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance 1 1 Francesca Marta Elli
00080696 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080697 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080698 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00080699 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00100342 - NOT PUBLISHED - F no Morocco - - 0 - - ACRDYS-1 - 1 1 Arrate Pereda
00100381 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - 1 1 Caroline Silve
00100382 - NOT PUBLISHED 2-generation family, 2 affecteds, (children and mother) M - (France) - - 0 - - ACRDYS-2 - 1 2 Caroline Silve
00100383 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - 1 1 Caroline Silve
00100384 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - 1 1 Caroline Silve
00132070 1 - - F no Brazil - >13y 0 - - ACRDYS-1 - 1 1 Karina Silveira
00248448 Fam1Pat4 PubMed: Dieterich 2013 - - yes Mali Malian - 0 - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound 1 1 Johan den Dunnen
00248502 - - - - - - - - 0 - - DFNB;ARNSHL - 1 2 -
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