Seckel Syndrome 8; Sckl8

Table of contents:

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

Description

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Genes related to Seckel Syndrome 8; Sckl8

DNA2

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Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 8; Sckl8

Intellectual disability
Global developmental delay
Short stature
Microcephaly
Growth delay
Micrognathia
Intrauterine growth retardation
Severe short stature
Kyphoscoliosis
Paraplegia

And another 3 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.

Seckel Syndrome 8; Sckl8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Depletion Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1 , (...) View the complete list with 3 more genes Panel complete gene list SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1, OPA3, POLG, POLG2 Specificity 5 % Genes 100 %
Seckel Syndrome Panel. By Genetic Services Laboratory University of Chicago (United States). NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8 Specificity 10 % Genes 100 %
Comprehensive Primordial Dwarfism Panel. By Genetic Services Laboratory University of Chicago (United States). PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...) View the complete list with 8 more genes Panel complete gene list PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2, TRAIP, RNU4ATAC, LIG4, TRIM37, ORC1, ORC4, ATR, RBBP8 Specificity 4 % Genes 100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes). By CGC Genetics (Portugal). SLC25A4, TWNK, TK2, MGME1, RRM2B, RNASEH1, DGUOK, DNA2, TYMP, OPA1, POLG, POLG2 Specificity 9 % Genes 100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes). By CGC Genetics (Portugal). SLC25A4, TWNK, TK2, MGME1, RRM2B, RNASEH1, DGUOK, DNA2, TYMP, OPA1, POLG, POLG2 Specificity 9 % Genes 100 %
Autosomal Dominant Progressive External Ophthalmoplegia via DNA2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DNA2 Specificity 100 % Genes 100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, DGUOK, DNA2, TYMP, MPV17, OPA1, OPA3 , (...) View the complete list with 2 more genes Panel complete gene list SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, DGUOK, DNA2, TYMP, MPV17, OPA1, OPA3, POLG, POLG2 Specificity 5 % Genes 100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...) View the complete list with 154 more genes Panel complete gene list BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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