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  2. Angelman Rett like syndromes

Angelman Rett like syndromes (Version 1.11)

Level 2: Dysmorphic and congenital abnormality syndromes

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Natasha Brown (Victorian Clinical Genetics Services)

37 Entities

37 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
37 Entitiess
Green List (high evidence)
ACTL6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Tags
Green List (high evidence)
ADSL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenylosuccinase deficiency, MIM# 103050
Tags
Green List (high evidence)
ASXL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bainbridge-Ropers syndrome (OMIM # 615485)
Tags
Green List (high evidence)
ATRX
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Green List (high evidence)
CDKL5
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, MIM 300672
Tags
Green List (high evidence)
EEF1A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 38, MIM# 616393
  • MONDO:0014617
  • Developmental and epileptic encephalopathy 33, MIM# 616409
  • MONDO:0014625
Tags
Green List (high evidence)
EHMT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1, MIM# 610253
  • MONDO:0027407
Tags
  • SV/CNV
Green List (high evidence)
FOXG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rett syndrome, congenital variant, MIM# 613454
Tags
Green List (high evidence)
GABBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903
Tags
Green List (high evidence)
GRIN2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 6, MIM# 613970
  • Developmental and epileptic encephalopathy 27, MIM# 616139
Tags
Green List (high evidence)
HECTD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Tags
Green List (high evidence)
HECW2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268
  • intellectual disability
  • epilepsy
  • regression
  • microcephaly
Tags
Green List (high evidence)
HERC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 38 (MIM 615516)
Tags
Green List (high evidence)
IQSEC2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656
  • Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Tags
Green List (high evidence)
KANSL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Koolen-De Vries syndrome, MIM# 610443
  • MONDO:0012496
Tags
  • SV/CNV
Green List (high evidence)
KCNA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early infantile encephalopathy 32, MIM#616366
Tags
Green List (high evidence)
KCNQ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 7, MIM# 613720
Tags
Green List (high evidence)
KIF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • NESCAV syndrome, MIM# 614255
  • Rett-like syndrome
Tags
Green List (high evidence)
MBD5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 1, MIM# 156200
  • MONDO:0007974
Tags
  • SV/CNV
Green List (high evidence)
MECP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rett syndrome, MIM# 312750
  • MONDO:0010726
Tags
Green List (high evidence)
MEF2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
  • MONDO:0013266
Tags
  • 5'UTR
  • SV/CNV
Green List (high evidence)
NTNG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Tags
Green List (high evidence)
SATB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glass syndrome, MIM# 612313
  • MONDO:0100147
Tags
Green List (high evidence)
SCN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 11, MIM# 613721
  • Rett-like
Tags
Green List (high evidence)
SHANK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
  • SV/CNV
Green List (high evidence)
SLC9A6
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
  • MONDO:0010278
Tags
Green List (high evidence)
SMC1A
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Tags
Green List (high evidence)
STXBP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 4, MIM# 612164
Tags
Green List (high evidence)
SYNGAP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 5, MIM# 612621
Tags
Green List (high evidence)
SYT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baker-Gordon syndrome, MIM# 618218
  • MONDO:0033864
Tags
Green List (high evidence)
TCF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pitt-Hopkins syndrome, MIM# 610954
Tags
Green List (high evidence)
UBE3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome, MIM#105830
Tags
  • SV/CNV
Green List (high evidence)
UBE3C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
Tags
Green List (high evidence)
WDR45
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 5, MIM# 300894
Tags
Green List (high evidence)
ZEB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mowat-Wilson syndrome, MIM# 235730
  • MONDO:0009341
Tags
  • SV/CNV
Amber List (moderate evidence)
SLC35F1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated
  • Rett-like syndrome
Tags
Amber List (moderate evidence)
UBTF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • MONDO:0044701
Tags

Major version comments

  • 2021-06-07 00:34 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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