NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details

ARCHIVED GeneReviews

Initial Posting: ; Last Revision: November 7, 2019.

Estimated reading time: 1 minute

For a variety of reasons, the GeneReviews Editors occasionally remove chapters from the active website. See the table for a list of the chapters that have been archived and the reasons why they were archived.

Archived GeneReview Chapter TitleReasonDate ArchivedSHORTNAME
15q24 Microdeletion Syndrome15-9-19mdel15q24
1p36 Deletion Syndrome18-8-19del1p36
2q37 Microdeletion Syndrome11-18-18del2q37_2
9q22.3 Microdeletion18-2-18mdel9q22_3
APOE p.Leu167del-Related Lipid Disorders911-7-19apoe-leu167del
Caveolinopathies410-31-19cav
Central Core Disease311-7-19cco
Charcot-Marie-Tooth Neuropathy Type 127-5-18cmt1
Charcot-Marie-Tooth Neuropathy Type 227-5-18cmt2
Charcot-Marie-Tooth Neuropathy Type 2E/1F28-15-19cmt2e
Charcot-Marie-Tooth Neuropathy Type 427-5-18cmt4
Charcot-Marie-Tooth Neuropathy Type 4H29-19-19cmt4h
Charcot-Marie-Tooth Neuropathy Type 4J29-19-19cmt4j
Congenital Fiber-Type Disproportion34-18-19cftd
Congenital Muscular Dystrophy Overview410-18-18cmd-overview
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy29-19-19cmt-dib
Early-Onset Familial Alzheimer Disease59-13-18alzheimer-early
Familial Paroxysmal Kinesigenic Dyskinesia61-11-18pknd
Hemophagocytic Lymphohistiocytosis, Familial410-3-19hlh
Hereditary Neuralgic Amyotrophy78-29-19hna
Leber Congenital Amaurosis85-24-18lca
Lenz Microphthalmia Syndrome911-7-19lenz
Limb-Girdle Muscular Dystrophy Overview45-17-18lgmd-overview
Majeed Syndrome99-12-19majeed
MAPT-Related Disorders410-25-18ftdp-17
Microphthalmia/Anophthalmia/Coloboma Spectrum411-7-19anophthalmia-ov
Mucolipidosis III Alpha/Beta108-29-19ml3a
Multiminicore Disease34-18-19mmd
Myofibrillar Myopathy35-9-19mfm
Myostatin-Related Muscle Hypertrophy94-18-19mstn
Nemaline Myopathy311-7-19nem
Neuronal Ceroid-Lipofuscinosis114-11-19ncl
Primary AR Microcephalies and Seckel Syndrome Spectrum Disorders119-10-18microcephaly
Sialuria93-7-19sft
Spinocerebellar Ataxia Type 12912-13-18sca12
Spinocerebellar Ataxia with Axonal Neuropathy, AR96-13-19scan1
Tetra Amelia93-7-19tetra-amelia
Wolf-Hirschhorn Syndrome14-18-19whs
1.

Non-recurrent deletions; refers to deletions of varying size — in contrast to a recurrent deletion, defined as a deletion of a specific size (usually mediated by nonallelic homologous recombination) occurring multiple times in the general population

2.
3.

Histologic diagnosis without strong genetic correlation

4.

Outdated

5.
6.
7.

Rarely genetic

8.
9.

Extremely rare

10.
11.

Chapter does not reflect current use of genetic testing.

Note:

  • Archived chapters are no longer searchable in GeneReviews Advanced Search; however, you can use the following URL and hand-enter the chapter SHORTNAME (see table) to access the archived version: https://www.ncbi.nlm.nih.gov/books/n/gene/SHORTNAME.
  • The information in archived chapters is for historical reference only and is potentially misleading as it does not reflect current approaches to diagnosis, management, and genetic counseling. — The Editors
Copyright © 1993-2019, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2019 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK547596

Views

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...