Gene Dossiers

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Gene dossier Disorders Genes
Tay-Sachs Disease

London South East RGC GSTT - 2012

  • Tay-Sachs Disease
    • B Variant GM2-Gangliosidosis
    • GM2-Gangliosidosis, Type I
    • HEXA deficiency
    • Hexosaminidase A Deficiency
  • hexosaminidase subunit alpha
    • hexosaminidase a (alpha polypeptide)
Thiamine-Responsive Megaloblastic Anemia Syndrome

Exeter RGC - 2008

  • Thiamine-Responsive Megaloblastic Anemia Syndrome
    • Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness
    • Rogers Syndrome
    • Thiamine-Responsive Anemia Syndrome
    • Thiamine-Responsive Myelodysplasia
  • solute carrier family 19 member 2
    • solute carrier family 19 (thiamine transporter) member 2
Thrombocytopenia Absent-Radius Syndrome (1q21.1 200kb deletion)

Bristol RGC - 2010

  • Thrombocytopenia-Absent Radius Syndrome
    • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
    • TAR Syndrome
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
Thrombocytopenia Absent-Radius Syndrome (RBM8A)

Bristol RGC - 2013

  • Thrombocytopenia-Absent Radius Syndrome
    • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
    • TAR Syndrome
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
Thyroid Dyshormonogenesis

Glasgow RGC - 2013

  • Thyroid Dyshormonogenesis 2A
    • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2A
    • Iodide Peroxidase Deficiency
    • Thyroid Hormonogenesis, Genetic Defect In, 2A
    • Thyroid Peroxidase Deficiency
  • Thyroid Dyshormonogenesis 3
    • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 3
    • Thyroid Hormonogenesis, Genetic Defect In, 3
  • thyroglobulin
  • thyroid peroxidase
    • thyroperoxidase
Thyroid Hormone Resistance, Selective Pituitary

Cambridge RGC - 2008

  • Thyroid Hormone Resistance, Selective Pituitary
    • Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion
  • thyroid hormone receptor, beta
    • avian erythroblastic leukemia VIral (v-erb-a) oncogene homolog 2
    • generalized resistance to thyroid hormone
    • oncogene erba2
    • thyroid hormone receptor beta 1
Townes-Brocks Syndrome

Nottingham RGC - 2013

  • Townes-Brocks Syndrome
    • Anus, Imperforate, With Hand, Foot, And Ear Anomalies
    • Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies
    • REAR Syndrome
    • Renal-Ear-Anal-Radial Syndrome
  • spalt-like transcription factor 1
    • sal (Drosophila)-like 1
    • SAL-like 1
    • sal-like 1 (Drosophila)
Treacher Collins Syndrome 2 and 3

Oxford RGC - 2012

Treacher Collins Syndrome 2 and 3

Oxford RGC - 2012

  • Treacher Collins Syndrome 2
  • RNA polymerase I subunit D
    • polymerase (RNA) I polypeptide D, 16kD
Treacher Collins Syndrome 2 and 3

Oxford RGC - 2012

  • Treacher Collins Syndrome 3
  • RNA polymerase I subunit C
    • polymerase (RNA) I polypeptide C, 30kDa

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