Paternal Uniparental Disomy Of Chromosome 6

Description

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

Clinical Features

Top most frequent phenotypes and symptoms related to Paternal Uniparental Disomy Of Chromosome 6

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Retrognathia
  • Umbilical hernia
  • Joint laxity

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Paternal Uniparental Disomy Of Chromosome 6 Is also known as upd(6)pat.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Paternal Uniparental Disomy Of Chromosome 6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
6q24 MS-MLPA for transient neonatal diabetes.

By Genetic Services Laboratory University of Chicago (United States).

HYMAI, PLAGL1
Specificity
100 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
15 %
Genes
100 %
Test for Diabetes Mellitus, 6q24-Related Transient Neonatal.

By MGZ Medical Genetics Center (Germany).

PLAGL1
Specificity
100 %
Genes
50 %
Uniparental Disomy of Chromosome 6.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

HYMAI, PLAGL1
Specificity
100 %
Genes
100 %
Transient Neonatal Diabetes Mellitus NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

HYMAI, PLAGL1
Specificity
100 %
Genes
100 %
PLAGL1.

By Fulgent Genetics Fulgent Genetics (United States).

PLAGL1
Specificity
100 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
50 %
HYMAI.

By Fulgent Genetics Fulgent Genetics (United States).

HYMAI
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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