Neutropenia, Severe Congenital, 4, Autosomal Recessive; Scn4

Clinical Features

Top most frequent phenotypes and symptoms related to Neutropenia, Severe Congenital, 4, Autosomal Recessive; Scn4

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cleft palate
  • Cryptorchidism
  • Anemia

And another 55 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.)
— The onset for some of the known clinical features related to this disease may vary, including neonatal 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.

Neutropenia, Severe Congenital, 4, Autosomal Recessive; Scn4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
G6PC3 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

G6PC3
Specificity
100 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2
Specificity
5 %
Genes
100 %
G6PC3 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

G6PC3
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

WAS, VPS45, HAX1, CSF3R, G6PC3, CXCR4, ELANE, GFI1
Specificity
13 %
Genes
100 %

You can get up to 36 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STROMME SYNDROME; STROMS SPINOCEREBELLAR ATAXIA 7; SCA7 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE OCULOAURICULAR SYNDROME; OCACS ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 HYPERLIPOPROTEINEMIA, TYPE III