6q16 Deletion Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

Genes related to 6q16 Deletion Syndrome

SIM1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to 6q16 Deletion Syndrome

Global developmental delay
Short stature
Microcephaly
Hypertelorism
Nystagmus
Strabismus
Muscular hypotonia
Low-set ears
High palate
Delayed speech and language development

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

6q16 Deletion Syndrome Is also known as del(6)(q16), prader-willi-like syndrome due to deletion 6q16, monosomy 6q16.

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.

6q16 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Obesity Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...) View the complete list with 18 more genes Panel complete gene list SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9, IFT172, DYRK1B, ALMS1, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, POMC, BBS1, BBS2, BBS4, BBS5 Specificity 3 % Genes 100 %
Monogenic Obesity Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...) View the complete list with 18 more genes Panel complete gene list SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9, IFT172, DYRK1B, ALMS1, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, POMC, BBS1, BBS2, BBS4, BBS5 Specificity 3 % Genes 100 %
SIM1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SIM1 Specificity 100 % Genes 100 %
Obesity (sequence analysis of SIM1 gene). By CGC Genetics (Portugal). SIM1 Specificity 100 % Genes 100 %
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SIM1, UCP3, KSR2, SH2B1, LEP, LEPR, MC4R, NR0B2, NTRK2, PCSK1, POMC Specificity 10 % Genes 100 %
Monogenic Obesity via SIM1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SIM1 Specificity 100 % Genes 100 %
Comprehensive Monogenic Obesity Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...) View the complete list with 31 more genes Panel complete gene list BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10, BBS12, C8orf37, WDPCP, BBIP1, TMEM67, CEP290, BBS9, SH2B1, DYRK1B, ALMS1, GNAS, MCHR1, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MKKS, MKS1, KMT2D, NR0B2, NTRK2, PCSK1, POMC, PPARG, BBS1, BBS2, BBS4, BBS5, RAI1 Specificity 2 % Genes 100 %
Obesity, severe, susceptibility to,. By Praxis fuer Humangenetik Wien (Austria). SIM1 Specificity 100 % Genes 100 %

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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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