Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1; Icf1

Description

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008). Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies SyndromeSee also ICF2 (OMIM ), caused by mutation in the ZBTB24 gene (OMIM ) on chromosome 6q21; ICF3 (OMIM ), caused by mutation in the CDCA7 gene (OMIM ) on chromosome 2q31; and ICF4 (OMIM ), caused by mutation in the HELLS gene (OMIM ) on chromosome 10q23.

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1; Icf1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism
  • Micrognathia
  • Failure to thrive
  • Abnormal facial shape
  • Cryptorchidism
  • Milia
And another 33 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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Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1; Icf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
ICF syndrome (deletion/duplication analysis of DNMT3B gene).

By CGC Genetics in Portugal.

DNMT3B
Specificity
100 %
Genes
100 %
ICF syndrome (deletion/duplication analysis of DNMT3B gene).

By CGC Genetics in Portugal.

DNMT3B
Specificity
100 %
Genes
100 %
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
100 %
Disorders of Sex Development (DSD) 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, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
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
100 %
Immunodeficiency-centromeric instability-facial anomalies syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

DNMT3B
Specificity
100 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel.

By Invitae in United States.

DNMT3B, ZBTB24
Specificity
50 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
DNMT3B.

By Fulgent Genetics Fulgent Genetics in United States.

DNMT3B
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
ICF SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

DNMT3B, ZBTB24
Specificity
50 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1; Icf1 Is also known as immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, centromeric instability, immunodeficiency syndrome;ciid, immunodeficiency syndrome, variable.



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