6q Terminal 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

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Genes related to 6q Terminal Deletion Syndrome

ERMARD

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to 6q Terminal Deletion Syndrome

Seizures
Global developmental delay
Scoliosis
Hypertelorism
Nystagmus
Failure to thrive
Micrognathia
Strabismus
Abnormal facial shape
Delayed speech and language development

And another 39 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.

6q Terminal Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Cerebral Cortical Malformations Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Periventricular nodular heterotopia (NGS panel of 8 genes). By CGC Genetics (Portugal). DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L Specificity 13 % Genes 100 %
Periventricular nodular heterotopia (NGS panel of 8 genes). By CGC Genetics (Portugal). DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L Specificity 13 % Genes 100 %
C6orf70. By Amplexa Genetics Amplexa Genetics A/S (Denmark). ERMARD Specificity 100 % Genes 100 %
Brain malformations. By Asper Biogene Asper Biogene LLC (Estonia). STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2 , (...) View the complete list with 125 more genes Panel complete gene list STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2, ARFGEF2, PCNT, TBC1D20, ZNF423, CLP1, RAB3GAP1, RAB3GAP2, CENPJ, NDE1, EXOSC3, FKRP, ARX, TUBGCP6, ATP6V0A2, IER3IP1, RTTN, CDK5RAP2, ASPM, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, PDHX, RARS2, INPP5E, AHI1, GMPPB, PEX26, FAT4, KIF1BP, CREBBP, KNL1, B9D1, WDR62, TCTN3, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, NHEJ1, TCTN2, CPLANE1, SRD5A3, CEP63, POMGNT2, TCTN1, POMK, PIEZO2, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR24, B3GALNT2, DHCR7, DLAT, DLD, WASHC5, CEP290, CEP135, RPGRIP1L, CC2D2A, CEP152, GPSM2, DYNC1H1, KIF7, SEPSECS, SRPX2, TUBB2B, EFTUD2, ETFA, ETFB, ETFDH, FKTN, TMEM231, ISPD, FLNA, AKT3, GCSH, GLDC, ADGRG1, AMPD2, AMT, AP4M1, KIF2A, KIF5C, KIF11, LAMA2, LAMB1, LAMC3, LARGE1, MCPH1, MECP2, MKS1, NBN, NPHP1, OCLN, OPHN1, PAFAH1B1, CHMP1A, PDHA1, PDHB, ATR, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, ATRX, PIK3R2, PNKP, POMT1, PDP1, PQBP1, PEX19, PEX2, PEX5, RELN Specificity 1 % Genes 100 %
ERMARD. By Fulgent Genetics Fulgent Genetics (United States). ERMARD Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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