RETIRED GeneReviews

Margaret P Adam; Jerry Feldman; Ghayda M Mirzaa; Roberta A Pagon; Stephanie E Wallace; Lora JH Bean; Karen W Gripp; Anne Amemiya

RETIRED GeneReviews

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 retired and the reasons why they were retired. An archived version of these chapters may be accessed; see Note following table.

Table

Note:

Retired 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 of a retired chapter: https://www.ncbi.nlm.nih.gov/books/n/gene/SHORTNAME.
The information in retired chapters is for historical reference only and is potentially misleading as it does not reflect current approaches to diagnosis, management, and genetic counseling.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

Publication Details

Publication History

Initial Posting: October 10, 2019; Last Revision: April 25, 2024.

Copyright

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 (© 1993-2024 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.

Publisher

University of Washington, Seattle, Seattle (WA)

NLM Citation

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. RETIRED GeneReviews. 2019 Oct 10 [Updated 2024 Apr 25].

Retired GeneReview Chapter Title	Reason	Date Retired	SHORTNAME
15q24 Microdeletion Syndrome	1	5-9-19	mdel15q24
1p36 Deletion Syndrome	1	8-8-19	del1p36
22q11.2 Duplication	12	1-30-20	dupl22q11
2q37 Microdeletion Syndrome	1	1-18-18	del2q37_2
9q22.3 Microdeletion	1	8-2-18	mdel9q22_3
Adams-Oliver Syndrome	4	8-17-23	adams-oliver
APOE p.Leu167del-Related Lipid Disorders	9	11-7-19	apoe-leu167del
CATSPER-Related Male Infertility	16	12-14-23	catsper-mi
Caveolinopathies	13	10-31-19	cav
Central Core Disease	3	11-7-19	cco
Charcot-Marie-Tooth Neuropathy Type 1	2	7-5-18	cmt1
Charcot-Marie-Tooth Neuropathy Type 2	2	7-5-18	cmt2
Charcot-Marie-Tooth Neuropathy Type 2E/1F	2	8-15-19	cmt2e
Charcot-Marie-Tooth Neuropathy Type 4	2	7-5-18	cmt4
Charcot-Marie-Tooth Neuropathy Type 4H	2	9-19-19	cmt4h
Charcot-Marie-Tooth Neuropathy Type 4J	2	9-19-19	cmt4j
Charcot-Marie-Tooth Neuropathy X Type 5	15	6-8-23	cmtx5
Congenital Fiber-Type Disproportion	3	4-18-19	cftd
Congenital Hepatic Fibrosis	3	5-14-20	hepatic-fibrosis
Congenital Muscular Dystrophy Overview	4	10-18-18	cmd-overview
Craniofacial Microsomia Overview	7	4-2-20	m-hfm-ov
DFNX1 Nonsyndromic Hearing Loss and Deafness	15	6-8-23	dfnx1
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy	2	9-19-19	cmt-dib
Early-Onset Familial Alzheimer Disease	5	9-13-18	alzheimer-early
Episodic Ataxia Type 2	9	10-22-20	ea2
Esophageal Atresia / Tracheoesophageal Fistula Overview	11	4-20-23	tef-ov
Familial Exudative Vitreoretinopathy, Autosomal Dominant	13	9-3-20	fevr
Familial Monosomy 7 Syndrome	11	11-19-20	mono7-mds
Familial Paroxysmal Kinesigenic Dyskinesia	6	1-11-18	pknd
Hereditary Neuralgic Amyotrophy	7	8-29-19	hna
Hirschsprung Disease Overview	12	3-5-20	hirschsprung-ov
Leber Congenital Amaurosis	8	5-24-18	lca
Lenz Microphthalmia Syndrome	9	11-7-19	lenz
Leukodystrophy Overview	12	1-30-20	leukodys-ov
Limb-Girdle Muscular Dystrophy Overview	13	5-17-18	lgmd-overview
Majeed Syndrome	14	9-12-19	majeed
Microphthalmia/Anophthalmia/Coloboma Spectrum	4	11-7-19	anophthalmia-ov
Mucolipidosis III Alpha/Beta	10	8-29-19	ml3a
Multiminicore Disease	3	4-18-19	mmd
Myofibrillar Myopathy	3	5-9-19	mfm
Myopathy with Deficiency of ISCU	9, 13	2-10-22	myodef-sda
Myostatin-Related Muscle Hypertrophy	9	4-18-19	mstn
Nemaline Myopathy	3	11-7-19	nem
Neuronal Ceroid-Lipofuscinosis	11	4-11-19	ncl
Nonsyndromic Hearing Loss and Deafness, DFNA3	4	9-7-23	dfna3
Ocular Albinism, X-Linked	13	11-10-21	x-oa
Oculocutaneous Albinism Type 1	4	1-7-21	oca1
Oculocutaneous Albinism Type 2	4	1-7-21	oca2
Primary AR Microcephalies and Seckel Syndrome Spectrum Disorders	11	9-10-18	microcephaly
Proopiomelanocortin Deficiency	9	4-16-20	pomc-def
Sialuria	9	3-7-19	sft
Spinocerebellar Ataxia Type 12	9	12-13-18	sca12
Spinocerebellar Ataxia Type 15	4	4-25-24	sca15
Spinocerebellar Ataxia Type 36	9, 13	2-11-21	sca36
Susceptibility to Infection-Induced Acute Encephalopathy 3	9	9-10-20	iiae3
Tetra Amelia	9	3-7-19	tetra-amelia
Wolf-Hirschhorn Syndrome	1	4-18-19	whs
X-Linked Sideroblastic Anemia and Ataxia	9	8-20-20	sider-anemia

1.: Non-recurrent deletions or duplications; refers to deletions/duplications of varying size – in contrast to a recurrent deletion/duplication, defined as a deletion/duplication of a specific size (usually mediated by nonallelic homologous recombination) occurring multiple times in the general population

2.: Covered in Charcot-Marie-Tooth Hereditary Neuropathy Overview

3.: Histologic diagnosis without strong genetic correlation

4.: Outdated

5.: Covered in Alzheimer Disease Overview

6.: Covered in PRRT2-Associated Paroxysmal Movement Disorders

7.: Rarely genetic

8.: Covered in LCA/EOSRD Overview

9.: Extremely rare

10.: Covered in GNPTAB-Related Disorders

11.: Chapter does not reflect current use of genetic testing.

12.: Phenotype is too broad.

13.: Outdated; qualified authors not available for update

14.: Covered in LPIN2-Related Majeed Syndrome

15.: Covered in Phosphoribosylpyrophosphate Synthetase Deficiency

16.: Covered in STRC-Related Autosomal Recessive Hearing Loss