Gene Symbol:
MECP2
HGNC:6990
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

Rett syndrome
Submitted as: OMIM:312750
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
X-linked intellectual disability-psychosis-macroorchidism syndrome
Submitted as: OMIM:300055
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
chromosome Xq28 duplication syndrome
Submitted as: OMIM:300815
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
severe neonatal-onset encephalopathy with microcephaly
Submitted as: OMIM:300673
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Rett syndrome
Submitted as: OMIM:312750
XL
06/14/2018
Evaluated
03/02/2021
Submitted
severe neonatal-onset encephalopathy with microcephaly
Submitted as: OMIM:300673
XL
07/22/2015
Evaluated
09/11/2023
Submitted
chromosome Xq28 duplication syndrome
Submitted as: OMIM:300815
XL
07/22/2015
Evaluated
09/11/2023
Submitted
syndromic X-linked intellectual disability Lubs type
Submitted as: OMIM:300260
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
syndromic X-linked intellectual disability Lubs type
Submitted as: OMIM:300260
XL
07/22/2015
Evaluated
09/11/2023
Submitted
Rett syndrome
Submitted as: OMIM:312750
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Rett syndrome
Submitted as: OMIM:312750
XL
09/14/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

severe neonatal-onset encephalopathy with microcephaly
Submitted as: Orphanet:209370
XL
09/14/2021
Evaluated
09/14/2021
Submitted
non-syndromic X-linked intellectual disability
Submitted as: Orphanet:777
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked intellectual disability-psychosis-macroorchidism syndrome
Submitted as: Orphanet:3077
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Rett syndrome
Submitted as: Orphanet:778
XL
09/14/2021
Evaluated
09/14/2021
Submitted
atypical Rett syndrome
Submitted as: Orphanet:3095
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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