Galloway-mowat Syndrome 1; Gamos1

Description

Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat SyndromeGAMOS2 (OMIM ) is caused by mutation in the LAGE3 gene (OMIM ) on chromosome Xq28; GAMOS3 (OMIM ) is caused by mutation in the OSGEP gene (OMIM ) on chromosome 14q11; GAMOS4 (OMIM ) is caused by mutation in the TP53RK gene (OMIM ) on chromosome 20q13; and GAMOS5 (OMIM ) is caused by mutation in the TPRKB gene (OMIM ) on chromosome 2p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Galloway-mowat Syndrome 1; Gamos1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Hypertelorism
  • Ataxia
  • Nystagmus
And another 116 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.


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Galloway-mowat Syndrome 1; Gamos1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
13 %
Genes
100 %
TP53RK.

By Fulgent Genetics Fulgent Genetics in United States.

TP53RK
Specificity
100 %
Genes
17 %
OSGEP.

By Fulgent Genetics Fulgent Genetics in United States.

OSGEP
Specificity
100 %
Genes
17 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
17 %
WDR73 mutation analysis (Galloway-Mowat syndrome).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

WDR73
Specificity
100 %
Genes
17 %
Galloway-Mowat Syndrome via the WDR73 Gene.

By PreventionGenetics PreventionGenetics in United States.

WDR73
Specificity
100 %
Genes
17 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
34 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
34 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
17 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
34 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
17 %
Focal Segmental Glomerulosclerosis Panel.

By CeGaT GmbH in Germany.

COQ6, PAX2, INF2, ACTN4, TRPC6, CD2AP, APOL1, CRB2, WDR73, MYO1E, ANLN, ARHGAP24, NXF5, ALDH1A2
Specificity
8 %
Genes
17 %
Nephrotic Syndrome Panel.

By CeGaT GmbH in Germany.

WT1, COQ2, NPHS2, NPHS1, LAMB2, PLCE1, DGKE, COQ8B, ITGA3, SMARCAL1, WDR73, ARHGDIA, EMP2, PTPRO
Specificity
8 %
Genes
17 %
Single gene testing WDR73.

By CeGaT GmbH in Germany.

WDR73
Specificity
100 %
Genes
17 %
WDR73.

By Fulgent Genetics Fulgent Genetics in United States.

WDR73
Specificity
100 %
Genes
17 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
34 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
17 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
34 %
WDR73 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

WDR73
Specificity
100 %
Genes
17 %
Yoder Dystonia (WDR73) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

WDR73
Specificity
100 %
Genes
17 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
17 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
17 %
Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 Gene.

By PreventionGenetics PreventionGenetics in United States.

NUP107
Specificity
100 %
Genes
17 %

Alternate names

Galloway-mowat Syndrome 1; Gamos1 Is also known as microcephaly, hiatal hernia, and nephrotic syndrome, galloway syndrome, nephrosis-neuronal dysmigration syndrome, nephrosis-microcephaly syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;camos, spinocerebellar ataxia, autosomal recessive 5, formerly;scar5, formerly;galloway syndrome; microcephaly-hiatus hernia-nephrotic syndrome; nephrosis-neuronal dysmigration syndrome.



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