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Intellectual disability v2.587 FRRS1L Konstantinos Varvagiannis gene: FRRS1L was added
gene: FRRS1L was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27236917; 27239025; 21147040; 29276473
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37 (MIM 616981)
Penetrance for gene: FRRS1L were set to Complete
Review for gene: FRRS1L was set to GREEN
gene: FRRS1L was marked as current diagnostic
Added comment: Biallelic pathogenic variants in FRRS1L cause Epileptic encephalopathy, early infantile, 37 (EIEE37 - MIM 616981).

Several individuals homozygous for LoF variants have been reported by Madeo et al. (PMID:27236917) and Shaheen et al. (PMID:27239025 - 2 individuals of this family previously published in 21147040). DD and choreoathetotic movement disorder may precede onset of seizures and subsequent regression. Intellectual disability was a universal feature.

Both articles and the respective phenotype are summarized in OMIM.

Extensive functional studies have been performed in the article by Madeo et al. as well as in PMID: 29276473 (Han et al.) and suggest a role in glutamatergic transmission.

FRRS1L is included in the DD panel of G2P, associated with Epileptic encephalopathy with continuous spike-and-wave during sleep.

This gene is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the ID panel as green, if the phenotype of EIEE is thought to be relevant.
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.587 GTF3C3 Konstantinos Varvagiannis reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552426, 28940097, 28097321; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.587 TCF20 Konstantinos Varvagiannis edited their review of gene: TCF20: Added comment: One further individual investigated for mild ID and focal epilepsy was found to harbor a de novo frameshift variant [NM_005650.3:c.5430dup or p.(Ala1811Serfs*4)] in PMID: 30525188.; Changed publications: 27436265, 25228304, 28135719, 27479843, 28333917, 28554332, 30525188
Intellectual disability v2.587 DONSON Konstantinos Varvagiannis gene: DONSON was added
gene: DONSON was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities (MIM 617604); Microcephaly-micromelia syndrome (MIM 251230)
Penetrance for gene: DONSON were set to unknown
Review for gene: DONSON was set to AMBER
gene: DONSON was marked as current diagnostic
Added comment: It seems that the phenotypes related to DONSON biallelic mutations (PMIDs: 28630177, 28191891) can be extremely variable with pre-/perinatally lethal cases to variable degrees of microcephaly (-2.4 to -10.7 SD), short stature (several individuals with height within the normal percentiles), limb anomalies (many without such anomalies, or at least significant). Similarly, DD and more specifically ID has been observed in some patients (when it happened to be the case it was most commonly mild).

This is most evident in the supplementary information of PMID: 28191891, specifically the following table:
https://media.nature.com/original/nature-assets/ng/journal/v49/n4/extref/ng.3790-S2.xlsx

Clinical synopses for the DONSON-related phenotypes:
https://www.omim.org/clinicalSynopsis/table?mimNumber=617604,251230

The gene is not associated with any phenotype in G2P.

DONSON is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, gene could be considered for inclusion in the ID panel probably as amber (or green) following further review and/or if the phenotype is though to be relevant.

[Consider also inclusion in other relevant panels apart from microcephaly, eg. limb disorders etc.]
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.587 KCNQ3 Konstantinos Varvagiannis reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24851285, 24375629, 25524373, 23934111, 28135719; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.587 STAT1 Konstantinos Varvagiannis reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27114460; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.587 TCF20 Konstantinos Varvagiannis reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27436265, 25228304, 28135719, 27479843, 28333917, 28554332; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.587 Louise Daugherty List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing; GMS R29 to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis commented on gene: ATP8B1: I could not find any evidence that ATP8B1 deficiency is associated with DD/ID.

Kinsley et al. (2014 - PMID: 20301474) review the spectrum of the disorder. DD/ID is not among the features and not mentioned among extrahepatic manifestations. The only possibly relevant complication is vitamin E deficiency which can lead to neurologic manifestations (but not of this type).

Bull and Thompson (2018 - PMID: 30266155) also provide a review. DD/ID is not a feature, nor is it included in extrahepatic manifestations.

This was similarly the case in a previous review on PFIC1 by Paulusma et al. (2010 - PMID: 20422494).

The only potentially relevant article (Li et al. - PMID: 26382629) comments on the possibility of congenital hypothyroidism which seemed to be the case for 3 of 13 patients with ATP8B1 deficiency (2 further out of 13 had sub-clinical hypothyroidism). For the 3 individuals with primary hypothyroidism TSH and free thyroxine measurements were available at the ages of 2, 0 and 3 months. Among these patients however, one did not show biparental inheritance of the ATP8B1 variants as expected (both of maternal origin). For the 2 patients with subclinical hypothyroidism TSH was measured at the ages of 3 and 16 months. The authors suggest that congenital hypoparathyroidism - which in turn may affect cognitive development - may be a manifestation of ATP8B1 deficiency and as a result thyroid function should be monitored in these patients. [However testing for congenital hypothyroidism is commonly part of the newborn screening].

The ATP8B1-related phenotypes in OMIM include the following:
- Cholestasis, benign recurrent intrahepatic, MIM 243300 (AR)
- Cholestasis, intrahepatic, of pregnancy, 1, MIM 147480 (AD)
- Cholestasis, progressive familial intrahepatic 1, MIM 211600 (AR)

In G2P this gene is included in the DD panel, associated with ATP8B1-Related intrahepatic cholestasis.

ATP8B1 is not commonly included in gene panels for intellectual disability although this seems to be the case for few laboratories.

As a result, this gene could possibly be demoted to red.
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: 20301474, 30266155, 20422494, 26382629; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 ACAN Konstantinos Varvagiannis reviewed gene: ACAN: Rating: RED; Mode of pathogenicity: None; Publications: 27353333, 29464738, 27870580, 19110214, 11389160; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.584 ZBTB11 Konstantinos Varvagiannis gene: ZBTB11 was added
gene: ZBTB11 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 29893856; 28382966
Phenotypes for gene: ZBTB11 were set to Intellectual disability
Penetrance for gene: ZBTB11 were set to Complete
Review for gene: ZBTB11 was set to AMBER
Added comment: Fattahi et al. (PMID: 29893856) report on 9 individuals from 2 broader consanguineous pedigrees with biallelic ZBTB11 mutations.

Features in the first family (from Iran) consisted of moderate ID, microcephaly, ataxic gait, and spasticity with MRI findings of cerebellar atrophy and ventriculomegaly.

Individuals from the second family (from Pakistan) presented with moderate ID and variable features.

Homozygosity for missense ZBTB11 variants, private to each family was shown (NM_014415.3:c.2185C>T / p.H729Y and c.2640T>G / p.H880Q for the first and second family respectively).

As the authors note, ZBTB11 is predicted to be a zinc finger transcriptional regulator and one of the hypotheses emitted suggests possible disruption of DNA binding.

Functional studies performed demonstrated that the mutant proteins were excluded from the nucleolus where the (wt) protein localizes.

Previous zebrafish models (PMID: 28382966) suggested CNS degeneration among other phenotypes in Zbtb11 mutants.

Knockdown of the drosophila ZBTB11-ortholog (CkIIα-i1) resulted in recognizable shrinking of the mushroom body with significant reduction in the number of neurons compared to controls.

Other Zinc Finger and BTB Domain-Containing proteins cause disorders with ID as a prominent feature (eg. ZBTB16, ZBTB20, etc.).

ZBTB11 is not associated with any phenotype in OMIM nor in G2P.

As a result, this gene can be considered for inclusion in this panel probably as amber (2 pedigrees only) or green (given the supportive functional studies).
Sources: Literature
Intellectual disability v2.584 NR4A2 Konstantinos Varvagiannis gene: NR4A2 was added
gene: NR4A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 29770430; 30504930; 28544326; 27569545; 23554088; 28135719; 27479843; 25363768
Phenotypes for gene: NR4A2 were set to Language impairment; Intellectual disability; Autism; Behavioral abnormality
Penetrance for gene: NR4A2 were set to unknown
Review for gene: NR4A2 was set to GREEN
gene: NR4A2 was marked as current diagnostic
Added comment: Recent publications provide several lines of evidence that pathogenic NR4A2 variants cause DD/ID and/or autism spectrum disorder (ASD).

Lévy et al. (PMID: 29770430) summarize the phenotype of 2q24.1 microdeletions spanning either only NR4A2 [2 new patients as well as an individual reported by Reuter et al (PMID: 28544326)] or both NR4A2 and GPD2 (1 patient from this study as well as 2 further from Leppa et al. (PMID: 27569545) and Barge-Schaapveld et al. (PMID: 23554088)]. All these CNVs had occurred as de novo events. Common features included - among others - language impairment (6/6), ID (6/6), ASD (3/4) or abnormal behaviour (4/4).

As the authors note, NR4A2 belongs to a subfamily of highly conserved transcription factors. The gene is involved in several developmental processes, among others in neuronal development. Previous studies have also shown high expression in human fetal brain as well as a role in the development of language-related brain regions.

The absence of CNVs in general population encompassing NR4A2 (and presence of such CNVs spanning GDP2) as well as the minimal deletions confined to NR4A2 suggest that happloinsufficiency of NR4A2 is responsible for the DD/ID/ASD phenotypes. This is also supported by the HI index of 1.28 as well as pLI of 0.99.

Guo et al. (PMID: 30504930) report on a patient with de novo frameshift variant (p.P201Rfs*82) and provide a summary of individuals with de novo missense variants reported in larger DD/ID/ASD cohorts, namely :

- The DDD study (PMID: 28135719) : subjects DDD4K.00386 (R312Q - https://decipher.sanger.ac.uk/ddd/research-variant/1e7622c3a0ba1b506c5808ccea46e759#overview) and DDD4K.04161 (R289P - https://decipher.sanger.ac.uk/ddd/research-variant/673e8e570d28dd0c5797ddafb22e53eb#overview)

- By Lelieveld et al. (PMID: 27479843) : patient with ID and V307G

- By Iossifov et al. (PMID: 25363768) : subject with ASD and Y275H.

[All these appear to cluster in a region of missense constraint : https://decipher.sanger.ac.uk/gene/NR4A2#overview/protein-info].

NR4A2 is not associated with any phenotype in OMIM, nor in G2P.

The gene is included in gene panels for intellectual disability offered by diagnostic laboratories (incl. Radboudumc).

As a result, it could be considered for inclusion in this panel possibly as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 ELN Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: 20301427, 14556246, 11701637; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 ELN Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.584 ELN Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 20301427, 14556246, 11701637; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 TRPS1 Konstantinos Varvagiannis reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28426188, 25792522, 28256045, 11112658, 17689056, 22127049, 14560312, 17854380; Phenotypes: Trichorhinophalangeal syndrome, type I (MIM 190350), Trichorhinophalangeal syndrome, type III (MIM 190351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.584 GUCY2C Konstantinos Varvagiannis reviewed gene: GUCY2C: Rating: RED; Mode of pathogenicity: None; Publications: 22436048; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.584 RASA1 Konstantinos Varvagiannis reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: 29891884, 21348050, 21626678; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.584 AIMP2 Konstantinos Varvagiannis gene: AIMP2 was added
gene: AIMP2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 (MIM 618006)
Penetrance for gene: AIMP2 were set to Complete
Review for gene: AIMP2 was set to AMBER
gene: AIMP2 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in AIMP2 cause Leukodystrophy, hypomyelinating, 17 (MIM 618006).

3 individuals from 2 unrelated consanguineous families, of Indian origin have been reported (all in PMID: 29215095).

The phenotype consisted of feeding difficulties, lack of development with intellectual disability and seizures as well as brain MRI abnormalities (cerebral and cerebellar atrophy, hypo-intensities of the basal ganglia on T2w sequences). Severe microcephaly was observed in 2 patients for whom this information was available (birth measurements not specified).

All patients described to date were homozygous for a nonsense variant [NM_006303.3:c.105C>A or p.(Tyr35Ter)] which appears to be a founder mutation in this population.

Quantitative reverse transcription PCR demonstrated reduced mRNA levels in peripheral lymphocytes, but this decrease was not significant compared to controls (the authors presume low level of NMD).

Previous mouse models provide some - but not substantial - support.

The authors note marked similarity with the phenotype associated with AIMP1 (Leukodystrophy, hypomyelinating, 3 - MIM 260600), another auxiliary protein of the macromolecular multienzyme multi-tRNA synthetase complex. AIMP1 is listed in the current panel as green.

AIMP2 is not associated with any phenotype in G2P.

This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

As a result, AIMP2 can be considered for inclusion in this panel probably as amber.
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 VPS11 Konstantinos Varvagiannis gene: VPS11 was added
gene: VPS11 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683)
Penetrance for gene: VPS11 were set to Complete
Review for gene: VPS11 was set to GREEN
gene: VPS11 was marked as current diagnostic
Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683).

PMIDs: 27120463, 26307567, 27473128 all report on this disorder.

The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals.

Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families.

A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents.

Pathogenicity is supported by extensive functional studies in all relevant articles.

VPS11 is not associated with any phenotype in G2P.

The gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in this panel as green.

[Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel].
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 PITRM1 Konstantinos Varvagiannis gene: PITRM1 was added
gene: PITRM1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Intellectual disability; Ataxia
Penetrance for gene: PITRM1 were set to Complete
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in PITRM1 seem to be associated with a phenotype of DD/ID and spinocerebellar ataxia.

6 individuals from 3 unrelated families have been reported.

PMID: 26697887 reports on 2 individuals from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln).

PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. All affected individuals for both families were homozygous for a further missense variant (p.Thr931Met).

The boys from one Palestinian family appeared to be more severely affected - compared to the sibs from the other family with the same variant - due to a concurrent X-chromosome rearrangement.

Pathogenicity is supported by extensive functional studies performed in both articles as well as an additional one (PMID: 29383861) on Arg183Gln.

PITRM1 is included in gene panels for ID offered by (few) diagnostic laboratories.

The gene is not associated with any phenotype in OMIM nor in G2P.

As a result, PITRM1 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.584 LINGO1 Konstantinos Varvagiannis gene: LINGO1 was added
gene: LINGO1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 (MIM 618103)
Penetrance for gene: LINGO1 were set to Complete
Review for gene: LINGO1 was set to AMBER
gene: LINGO1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in LINGO1 cause Mental retardation, autosomal recessive 64 (MIM 618103).

Ansar et al. (PMID: 28837161) report on 5 individuals from 2 consanguineous Pakistani families.

Affected individuals from both families presented with similar phenotype consisting of global developmental delay (5/5), intellectual disability (5/5), microcephaly (4/5) as well as abnormal behavior (5/5).

Subjects from both families were homozygous for missense variants (private to each family) affecting proximal residues (290 and 288) of the protein (NM_032808.6:c.869G>A or p.Arg290His and c.863A>G or p.Tyr288Cys).

All variants were absent in an ethnically matched control cohort (201 individuals) as well as the relevant subpopulation in gnomAD.

Functional studies were not performed.

LINGO1 is a transmembrane protein predominantly expressed in the CNS. Previous studies suggest that this protein has an important role in myelination, neuronal survival and CNS repair.

LINGO1 is rather intolerant to both missense and LoF variants (Z-score of 4 and pLI of 0.95). According to the authors these variants may be hypomorphic, which might in turn suggest that monoallelic heterozygous LoF mutations could cause ID (although this remains an assumption).

This gene is not associated with any phenotype in G2P but is included in panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, LINGO1 can be considered for inclusion in this panel probably as amber (2 families, no functional studies).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 28777935; Phenotypes: Epileptic encephalopathy, early infantile, 41 (MIM 617105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.584 ABCC6 Konstantinos Varvagiannis reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301292, 25392903, 22209248; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.584 ABCB11 Konstantinos Varvagiannis reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: 30236549, 20232290; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.584 PAK1 Konstantinos Varvagiannis gene: PAK1 was added
gene: PAK1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Penetrance for gene: PAK1 were set to unknown
Mode of pathogenicity for gene: PAK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PAK1 was set to AMBER
Added comment: Heterozygous pathogenic PAK1 variants cause Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158).

Harms et al. (PMID: 30290153) report on two unrelated individuals with de novo missense mutations in PAK1. Common features included developmental delay with associated intellectual disability, seizures, ataxic gait. Postnatal-onset microcephaly as well as some facial features were also common to both subjects.

Each patient was found to harbour a (private) de novo missense variant [NM_001128620.1:c.392A>G or p.(Tyr131Cys) - c.1286A>G or p.(Tyr429Cys)]. Expression studies demonstrated similar levels for the mutant and wt transcript and Western blot confirmed similar amounts of protein in patient fibroblasts when compared to controls. Functional studies suggest that gain-of-function is the underlying mechanism for both variants.

PAK1 is not associated with any phenotype in G2P.

As a result, this gene can be considered for inclusion in this panel as amber.
Sources: Literature
Intellectual disability v2.584 FUK Konstantinos Varvagiannis gene: FUK was added
gene: FUK was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: FUK were set to Complete
Review for gene: FUK was set to AMBER
Added comment: Ng et al. (PMID: 30503518) report on 2 unrelated individuals with biallelic pathogenic variants in FUK. The common features consisted of feeding difficulties, hypotonia, global developmental delay with severe intellectual disability, seizures as well as visual impairment.

The first patient was compound heterozygous for 2 missense variants (Ser223Pro and Arg683Cys) while the second - born to consanguineous parents - was homozygous for Lys994Gln.

Significant reduction in the FUK protein amount was demonstrated upon Western blot for the first individual for whom fibroblast and lymphoblast cell lines were available.

Fucokinase (FUK) is an enzyme of the fucose salvage pathway, one of the mechanisms (the other and main contributor being the de novo pathway) for synthesis of GDP-fucose. GDP-fucose is a donor substrate for fucosylation, a form of glycosylation. Significant decrease of fucokinase activity was shown for this individual when compared to controls.

Cell lines from the second individual were not available for expression/functional studies.

Overall the authors suggest loss-of-function variants cause a congenital disorder of glycosylation with ID and seizures.

There are no further cases published in the literature.

FUK is not associated with any phenotype in OMIM nor in G2P.

As a result this gene can be considered for inclusion in this panel as amber.

[You might consider inclusion of this gene also in the CDG gene panel].
Sources: Literature
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis gene: SLC1A2 was added
gene: SLC1A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A2 were set to 27476654; 28777935
Phenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41 (MIM 617105)
Penetrance for gene: SLC1A2 were set to Complete
Review for gene: SLC1A2 was set to AMBER
gene: SLC1A2 was marked as current diagnostic
Added comment: Pathogenic variants in SLC1A2 cause Epileptic encephalopathy, early infantile, 41 (EIEE41 - MIM 617105).

At least 4 unrelated patients each with (private) de novo variants have been reported. ID is a universal feature.

This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

SLC1A2 is a probable DD gene in G2P associated with Epileptic encephalopathy.

As a result this gene could possibly be included in this panel as amber or green if the phenotype is thought to be relevant (5 more EIEEs in this panel - all rated green).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 PTRHD1 Konstantinos Varvagiannis gene: PTRHD1 was added
gene: PTRHD1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 29143421; 27753167
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Penetrance for gene: PTRHD1 were set to Complete
Review for gene: PTRHD1 was set to AMBER
gene: PTRHD1 was marked as current diagnostic
Added comment: 7 individuals with biallelic PTRHD1 mutations from 3 pedigrees have been reported. The phenotype in all consisted of early-onset Parkinsonism with intellectual disability (overview in Table 1 - PMID: 30398675).

Jaberi et al. (PMID: 27134041) first reported on 2 sibs born to consanguineous Iranian parents. Both presented with parkinsonism with ID. After homozygosity mapping and exome sequencing, one variant in PTRHD1 (NM_001013663.1:c.155G>A or p.Cys52Tyr) as well as another variant in ADORA1 were the only candidates for the patients phenotype. At the time, the authors favored ADORA1 as the causative gene for their patients' phenotype but could not exclude pathogenicity of PTRHD1.

Khodadadi et al. (PMID: 27753167) published on 2 additional sibs from Iran with a similar phenotype. These individuals - born to consanguineous parents - were homozygous for a further PTRHD1 missense variant (p.His53Tyr) which is proximal to the variant reported by Jaberi et al.

This led the authors of the first publication to acknowledge that PTRHD1 was probably responsible for their patients' phenotype (PMID: 29143421). [A recent study of exome sequencing data of a Parkinson disease 1214-patient cohort failed to find any case explained by biallelic ADORA1 mutations - PMID: 27987235].

The variants reported in these 2 publications are classified as VUS in OMIM (last update : 02/23/2017).

Kuipers et al. (PMID: 30398675) report on 3 additional individuals of African origin with identical phenotype. These individuals, whose parents originated from an isolated african community, were homozygous for a frameshift PTRHD1 deletion (c.169_196del or p.Ala57Argfs*26). This variant is rare in gnomAD (MAF of 0.018% overall or 0.15% in the African subpopulation). Alternative causes of PD / parkinsonism were previously excluded.

The phenotype of all reported individuals is summarized in Table 1 of this article.

PTRHD1 is not assocated with any phenotype in OMIM nor in G2P.

This gene is included in the gene panel for ID, offered by Radboudumc.

Therefore, this gene can be considered for inclusion in this panel as amber or green.

[Please consider inclusion of this gene in the Parkinson Disease and Complex Parkinsonism gene panel].
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.583 CCDC47 Konstantinos Varvagiannis gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability
Penetrance for gene: CCDC47 were set to Complete
Review for gene: CCDC47 was set to GREEN
Added comment: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.

The patients were found to harbor the variants in compound heterozygous or more commonly in homozygous state (due to consanguinity and/or common ancestry). 4 loss-of-function variants are reported in total (using NM_020198.2 as a reference):
- c.811C>T or p.(Arg271*) [consanguineous family of Turkish origin]
- c.1145delT or p.(Leu382Argfs*2) [probably a founder mutation in Amish]
- c.1165delT or p.(Ser389Leufs*25)
- c.1189C>T or p.(Arg397*)

Decreased mRNA levels in fibroblasts/lymphoblastoid cells were shown as well as absence of the protein upon Western blot using antibodies recognizing the N and C terminus (thus suggesting NMD).

Localization of CCDC47 in the ER was demonstrated with perturbed Ca+2 homeostasis and signalling in the ER.

Ccdc47-knockout mice present features similar to the human phenotypes eg. growth, neurological as well as heart anomalies. In mice embryonic/neonatal lethality was noted in some cases which might be associated with recurrent miscarriages reported in 3 patient families.

CCDC47 is not associated with any phenotype in G2P or OMIM.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.583 DHDDS Rebecca Foulger Classified gene: DHDDS as Green List (high evidence)
Intellectual disability v2.583 DHDDS Rebecca Foulger Added comment: Comment on list classification: Added DHDDS to panel and rated Green: Probable DD-G2P gene for 'Epilepsy and intellectual disability' and sufficient unrelated (>3) cases of ID phenotype associated with heterozygous DHDDS variants from PMID:29100083. Plus compound het case of patient with glycosylation disorder and complex developmental phenotypes from PMID:27343064.
Intellectual disability v2.583 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability v2.582 DHDDS Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836 to Developmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861
Intellectual disability v2.581 DHDDS Rebecca Foulger Added comment: Comment on mode of inheritance: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects). During his short life, the boy made little psychomotor acquisitions, had no eye contact, poor sucking with frequent regurgitations and failure to thrive. I have selected both monoallelic and biallelic MOI to cover MIM:617836 (AD) and future cases where ID presents as a symptom of a recessive glycosylation disorder.
Intellectual disability v2.581 DHDDS Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.580 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836
Review for gene: DHDDS was set to GREEN
Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). The ID phenotype of patients covers severe/moderate-to-severe ID and global developmental delay.
Sources: Literature
Intellectual disability v2.579 NTRK2 Konstantinos Varvagiannis gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NTRK2 were set to 29100083; 28135719; 15494731; 27884935
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886)
Penetrance for gene: NTRK2 were set to unknown
Review for gene: NTRK2 was set to GREEN
gene: NTRK2 was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886).

DD/ID are among the observed features.

Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile who presented also with moderate to severe ID)].

Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083).

A de novo missense variant (Gly344Cys) was observed in DDD study participant DDD4K.02136 (PMID: 28135719).

NTRK2 is a probable DD gene in G2P associated with epilepsy and ID.

The gene is included in gene panels for ID offered by different diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.579 TMEM94 Konstantinos Varvagiannis gene: TMEM94 was added
gene: TMEM94 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM94 were set to Global developmental delay; Intellectual disability; Abnormal heart morphology; Abnormality of head or neck
Penetrance for gene: TMEM94 were set to Complete
Review for gene: TMEM94 was set to AMBER
Added comment: Stephen et al. (https://doi.org/10.1016/j.ajhg.2018.11.001) report on 10 individuals from 6 unrelated families with bi-allelic truncating TMEM94 variants. The common phenotype consisted of global DD/ID, similar facial features as well as the presence of congenital heart defects (in all but one).

Speech as well as motor delay and learning difficulties were universal features. ID is mentioned in the abstract, explicitly specified for one individual and implied for some of the rest.

Overall 6 different LoF variants are reported. Reduced expression was demonstrated while gene expression microarray and RNA sequencing expression studies demonstrated dysregulation of several essential genes. Using a CRISPR/Cas9 mouse model loss of Tmem94 was shown to be embryonically lethal with craniofacial, cardiac anomalies as well as abnormal neuronal migration pattern observed in homozygous mutant mice embryos.

TMEM94 is not associated with any phenotype in G2P nor in OMIM.

As a result this gene can be considered for inclusion in this panel probably as amber (or green).
Sources: Literature
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis reviewed gene: PUS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27055666, 30308082; Phenotypes: ?Mental retardation, autosomal recessive 55 (MIM 617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis gene: PUS3 was added
gene: PUS3 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 27055666; 30308082
Phenotypes for gene: PUS3 were set to Global developmental delay; Intellectual disability; Microcephaly
Penetrance for gene: PUS3 were set to Complete
Review for gene: PUS3 was set to AMBER
gene: PUS3 was marked as current diagnostic
Added comment: PUS3 (Pseudouridylate synthase 3) is proposed as a gene related to ID in a recent publication on PUS7.

Biallelic mutations in this gene are associated in OMIM with ?Mental retardation, autosomal recessive 55 (MIM 617051).

PMID: 27055666 reports on 3 sisters from a consanguineous Saudi Arabian family with failure to thrive, DD/ID, microcephaly and some common (coarse) facial features. These individuals were homozygous for a stopgain mutation in the last exon of the gene. Pseudouridylation appeared to be defective (as has also been the case with other genes related to ID, eg. PUS7).

PMID: 30308082 describes 1 individual born to consanguineous Palestinian parents, homozygous for a further LoF variant. Despite the localisation of this variant (again in the last exon of the gene) qPCR analyses were suggestive of degradation of the abnormal transcript possibly by NMD. The phenotype consisted of DD/ID and microcephaly.

In a further publication (http://dx.doi.org/10.7124/bc.0008D6) Gulkovskyi et al. report on 2 siblings with ID, born to non-consanguineous Ukranian parents. Pathogenicity of the variant is disputed. [NM_031307.4:c.212A>G or p.(Tyr71Cys) is found in an apparent homozygous state in the sibs but was only found in their father. De novo occurence in the maternal allele is proposed although the possibility of microdeletion missed by aCGH or other plausible mechanisms are not considered. This variant has maximum pathogenicity scores in silico (not discussed) and has an allele frequency of 0.00006717 in gnomAD. The authors did not perform studies of pseudouridylation but examined for the presence of hypoproteinemia, observed in some disorders affecting this process).

PUS3 is not associated with any phenotype in G2P but is associated with disease in OMIM.

The gene is included in gene panels for ID offered by various diagnostic laboratories (including Radboudumc). PUS1 is included in the current panel as green and PUS7 has been suggested for inclusion.

As a result, these gene can be considered for inclusion as amber (2 families) or green (given the supportive functional studies and/or the proposed role for the gene).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.579 PPP1R21 Zornitza Stark reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30520571, 29808498, 2894097; Phenotypes: severe intellectual disability, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.579 METTL23 Konstantinos Varvagiannis gene: METTL23 was added
gene: METTL23 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 24501276; 24626631
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 (MIM 615942)
Penetrance for gene: METTL23 were set to Complete
Review for gene: METTL23 was set to GREEN
gene: METTL23 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in METTL23 cause Mental retardation, autosomal recessive 44 (MIM 615942).

Reiff et al. (PMID: 24501276) report on a consanguineous pedigree of Yemeni origin with 7 individuals presenting intellectual disability. Clinical details are provided for 3 subjects from one branch of the family. Findings included moderate (2/3) or severe (1/3) ID, seizures (2/3) and some common facial features. Seizures were not observed in individuals from other branch of the family. The affected individuals were homozygous for a 4-bp deletion.

Bernkopf et al. (PMID: 24626631) report on a consanguineous family from Pakistan with 2 affected sibs as well as a non-consanguineous family from Austria with 4 affected sibs. The parents in the latter family originated from a small - geographically isolated - village. Individuals from the Pakistani family were homozygous for a nonsense variant, while the sibs from the Austrian family for a frameshift variant. Mild ID was noted in all.

In total 3 different LoF variants have been reported. Extensive functional studies have been performed in both articles.

METTL23 (methyltransferase like 23) is expressed at low-to-moderate levels in the developping human brain. Bernkopf et al. suggest that METTL23 is indeed a methyltransferase.

The gene has 7 transcripts of which one is non-coding. 3 transcripts encode isoform 1 and 3 other encode isoform 2.

The variant reported by Reiff et al. affects the coding region of 3 (of the 6 coding) transcripts (corresponding to isoform 1) and the 5'-UTR of the other 3 transcripts. It is however shown that this first coding exon (specific to isoform 1) is expressed in the developing human brain, though at lower levels than downstream exons common to both isoforms. In addition, only isoform 1 appears to be conserved in most other species.

The variants described by Bernkopf et al. affect all 6 coding trancripts and as a result both isoforms. [However, the individuals reported by Bernkopf et al. were less severely affected compared to those reported by Reiff et al.]

Nonsense-mediated decay appeared unlikely since mRNA levels for both isoforms in lymphoblasts from affected individuals were similar to controls (upon qRT-PCR) [The specific nonsense variant tested would be expected to be subject to NMD given its localization].

METTL23 is not associated with any phenotype in G2P.

This gene is included in gene panels for intellectual disability offered by various diagnostic laboratories.

As a result, METTL23 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.579 MAST1 Konstantinos Varvagiannis gene: MAST1 was added
gene: MAST1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST1 were set to 30449657; 28135719; 25666757; 27479843
Phenotypes for gene: MAST1 were set to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
Penetrance for gene: MAST1 were set to unknown
Review for gene: MAST1 was set to GREEN
gene: MAST1 was marked as current diagnostic
Added comment: PMID: 30449657 reports on 6 unrelated individuals with de novo mutations in MAST1. All these 6 individuals were investigated for a strikingly similar phenotype of enlarged corpus callosum (CC), cerebellar hypoplasia, cortical malformation with associated DD/ID. Seizures were a feature in 2/6 (one further had EEG anomalies without clinical seizures).

Three of them harbored an in-frame deletion of 1 amino-acid (3 different indels reported - all in a specific domain) while 3 others had a missense variant (NM_014975.2:c.1549G>A or p.Gly517Ser).

Mast1 has embryonic expression in murine models with postnatal decrease. Similarly qPCR of human fetal brain cDNA demonstrated expression at 13 and 22 gestational weeks. A murine model for L278del recapitulated the brain (incl. CC) and cerebellar phenotype while Mast1 knockout mice do not present similar morphological defects. While Western blot in murine brain lysates demonstrated absence of Mast1 in knockout and reduction in the L278del, Mast1 transcript levels for L278del were similar to wildtype. Other Mast proteins (Mast1 & Mast2) were significantly reduced upon western blot while this was not reflected in their mRNA levels, suggesting a dominant-negative effect, at least for the L278del.

4 additional individuals with somewhat different phenotype consisting DD/ID and microcephaly/autism are described in the supplement. All 4 had de novo missense variants but did not display the CC-cerebral and cerebellar anomalies. Four different (additional to Gly517Ser) missense SNVs were observed.

Several additional individuals exist in the denovo-db (among others DDD participant DDD4K.02310 published in 28135719, 25666757 - McMichael et al. commented in the article, 27479843, etc.). [http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=Mast1]

Epilepsy was a feature in 4/10 individuals (with an additional one with EEG anomalies without clinical seizures). One further individual from PMID:23934111 (in denovo-db) had seizures.

As the authors comment (and as evident from the 6+4 reported patients) the related neurodevelopmental phenotype may be more complex.

MAST1 is not related to any phenotype in G2P, nor in OMIM.

The gene is included in gene panels for ID offered by different diagnostic laboratories.

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature
Intellectual disability v2.579 RPIA Konstantinos Varvagiannis gene: RPIA was added
gene: RPIA was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611.
Penetrance for gene: RPIA were set to unknown
Review for gene: RPIA was set to GREEN
gene: RPIA was marked as current diagnostic
Added comment: Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611.

PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T / NP_653164.2:p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG / NP_653164.2:p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548].

PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis.

PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis.

RPIA is included in gene panels for intellectual disability offered by various diagnostic laboratories.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, Microcephaly, Short stature, Behavioral abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis gene: PUS7 was added
gene: PUS7 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS7 were set to Intellectual disability; Microcephaly; Short stature; Behavioral abnormality
Penetrance for gene: PUS7 were set to Complete
Review for gene: PUS7 was set to GREEN
gene: PUS7 was marked as current diagnostic
Added comment: de Brouwer et al. (https://doi.org/10.1016/j.ajhg.2018.10.026) report on 6 individuals from 3 unrelated families homozygous for truncating variants in PUS7.

The common phenotype consisted of ID with speech delay, microcephaly, short stature as well as aggressive behavior.

One frameshift, one nonsense and one intragenic deletion affecting the penultimate exon of PUS7 were private respectively to each family. qPCR demonstrated reduction of mRNA levels for the two first variants, with absence of the normally sized protein upon Western blot for the first one.

The deletion, not identified due to its small size by aCGH, was found in the exome analysis and confirmed by MAQ. RT-PCR demonstrated the absence of the respective exon in mRNA. The deletion resulted in introduction of a stop codon in the last exon and mRNA expression levels were shown to be normal. Western blot demonstrated absence of a normally sized protein. (As a result, truncating mutations in the last exon may also be deleterious).

Functional studies demonstrated defective tRNA and mRNA pseudouridylation. Drosophila knockouts recapitulated the behavioral phenotype.

Biallelic mutations in PUS1 and PUS3 have been reported in individuals with intellectual disability (as well as some other features noted in PUS7-related disorder).

PUS7 is included in the gene panel for ID offered by Radboud UMC (among the principal authors of the study).

Therefore this gene can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature
Intellectual disability v2.579 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Intellectual disability v2.578 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Intellectual disability v2.576 PPP1R21 Konstantinos Varvagiannis gene: PPP1R21 was added
gene: PPP1R21 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 29808498; 28940097
Phenotypes for gene: PPP1R21 were set to Generalized hypotonia; Feeding difficulties; Profound global developmental delay; Abnormality of the face; Abnormality of vision; Abnormal heart morphology; Abnormality of the respiratory system; Hepatosplenomegaly
Penetrance for gene: PPP1R21 were set to Complete
Review for gene: PPP1R21 was set to GREEN
Added comment: Biallelic pathogenic variants in PPP1R21 have been reported so far in 9 individuals from 7 unrelated families. All (7 different) variants reported to date are truncating.

PMID: 29808498 is the first detailed clinical description on the related phenotype. 3 individuals from 3 families are reported. One of these individuals was previously included in a larger patient cohort (in PMID: 28940097).

In a subsequent further publication, Rehman et al. (https://doi.org/10.1002/humu.23694) describe 6 additional patients from 4 unrelated consanguineous families. Again, these individuals were homozygous for truncating mutations. The authors summarize the findings in their patients as well as the previously reported ones.

Common features included feeding difficulties, hypotonia with severe global DD and mildly coarsened facial features (all were observed in 9/9), visual anomalies (8/9), respiratory problems (7/9), cardiac anomalies (4/9) and hepato-/splenomegaly (3/7). Brain MRI anomalies were observed in the majority. DD was severe in all and ID (which is not explicitly mentioned) was evident from the clinical description of several individuals (eg. in PMID: 29808498).

In total 7 loss-of-function variants have been reported. The authors in the first article, underscore the possibility of less severe phenotypes associated to biallelic missense variants (although none has been reported so far).

Functional studies have shown great reduction (but not complete absence) of PPP1R21 mRNA levels in patient fibroblasts compared to controls. A role of PPP1R21 in the endosomal-lysosomal function is demonstrated in line with the presence of myelin figures in patient fibroblasts as well as some phenotypic similarities to neurometabolic/lysosomal storage disorders.

Most variants reported in the most recent publication except one (NM_001135629.2:c.1607dupT) seem to affect all 3 PPP1R21 isoforms (which also seems to be the case for previously published variants). c.1607dupT appears to be the single truncating variant affecting 2 (of 3) isoforms. This variant was however shown to have severely reduced expression in fibroblasts upon qPCR, absent protein staining, and increase in myelin figures.

The protein is expressed in embryonic mouse cortex.

Overall, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.576 GRIN2D Konstantinos Varvagiannis gene: GRIN2D was added
gene: GRIN2D was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN2D were set to 27616483; 30280376
Phenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46 (MIM 617162)
Penetrance for gene: GRIN2D were set to unknown
Review for gene: GRIN2D was set to GREEN
gene: GRIN2D was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in GRIN2D cause Epileptic encephalopathy, early infantile, 46 (MIM 617162).

As commented in the previous review, PMID: 27616483 is the first report on 2 unrelated individuals with severe epileptic encephalopathy (onset of seizures at the age of 2 and 4 months). Severe DD with ID was noted in both.

Each of these individuals were heterozygous for the same missense variant (NM_000836.2:c.1999G>A p.Val667Ile) as a de novo event. Functional studies demonstrated a gain-of-function effect.

GRIN2D encodes for an NMDA receptor subunit, and the gain-of-function effect shown for this variant suggests that NMDAR antagonists might be useful as adjuvant therapy (some improvement noted in both individuals).

[The mode of pathogenicity selected here may be modified as more evidence on further variants becomes available. GRIN2D appears to be intolerant also to LoF mutations with a pLI of 1. Both LoF and GoF mutations have been described for genes encoding other NMDAR subunits].

PMID: 30280376 reports on 3 additional unrelated patients with developmental and epileptic encephalopathy and pathogenic or likely pathogenic missense variants in GRIN2D.

Three additional missense variants are reported (Met681Ile, Ser694Arg, Asp449Asn). Parental studies were possible only for the patient with Met681Ile (de novo) as well as for the individual with Ser694Arg (only one parent available though).

Significant developmental delay was evident in all prior to the onset of seizures (1m/2y/3y respectively) and subsequent developmental stagnation/regression with ID.

The phenotype of these 3 individuals as well as of the 2 previously described is summarized in table 1 of the latter article.

GRIN2D is a probable DD gene in G2P and is included in gene panels for ID offered by diagnostic laboratories.

Several other genes for NMDA receptor subunits (eg. GRIN2A, GRIN2B, GRIN1) and relevant/similar phenotypes are included in this panel as green.

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.575 C9orf72_GGGGCC Louise Daugherty Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Intellectual disability v2.574 MCM3AP Konstantinos Varvagiannis gene: MCM3AP was added
gene: MCM3AP was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124)
Penetrance for gene: MCM3AP were set to Complete
Review for gene: MCM3AP was set to AMBER
gene: MCM3AP was marked as current diagnostic
Added comment: Biallelic mutations in MCM3AP cause Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124).

All relevant publications [PMIDs: 24123876, 28633435 (first detailed description of a series of patients with functional studies), 28969388, 29982295) are summarized in OMIM.

Overall more than 18 patients from 10 families and at least 8 pathogenic variants have been reported.

Apart from abnormal motor development which may be associated with the sensorimotor neuropathy, intellectual disability was a feature in several individuals (although not a universal one).

Some patients were initially evaluated for their ID while investigations for the neuropathy may be conducted late (as evident in PMID: 28633435).

MCM3AP is included in gene panels for intellectual disability offered by diagnostic laboratories.

As a result, this gene can be considered for inclusion in the ID panel as amber or green (depending on its relevance to the specific panel).
Sources: Literature
Intellectual disability v2.574 SET Konstantinos Varvagiannis reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 25356899, 28135719; Phenotypes: Mental retardation, autosomal dominant 58 (MIM 618106); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as No list
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been removed from the panel.
Intellectual disability v2.573 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as No list
Intellectual disability v2.573 FXN_GAA Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.573 FXN_GAA Louise Daugherty Str: fxn_gaa has been removed from the panel.
Intellectual disability v2.572 FXN_GAA Louise Daugherty Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as No list
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been removed from the panel.
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as No list
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been removed from the panel.
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as No list
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been removed from the panel.
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Intellectual disability v2.566 ATXN1_CAG Louise Daugherty Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as No list
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been removed from the panel.
Intellectual disability v2.564 TRMT1 Konstantinos Varvagiannis reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30289604, 21937992, 26308914, 28784718; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.564 PRR12 Konstantinos Varvagiannis reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 29556724, 26163108, 28135719; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.564 PRR12 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.564 PRR12 Konstantinos Varvagiannis gene: PRR12 was added
gene: PRR12 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRR12 were set to 29556724; 26163108
Phenotypes for gene: PRR12 were set to Global developmental delay; Intellectual disability; Abnormality of the iris; Abnormality of vision; Behavioral abnormality
Penetrance for gene: PRR12 were set to unknown
Review for gene: PRR12 was set to GREEN
gene: PRR12 was marked as current diagnostic
Added comment: PMID: 29556724 (Leduc et al. 2018) reports on 3 unrelated individuals with de novo pathogenic variants in PRR12. The common phenotype consisted of DD/ID (3/3), iris anomalies (colobomas in 2/3 with stellate iris patern in all) as well as additional vision problems and behavioral anomalies.

3 different loss-of-function variants are reported. These variants affected the longer transcript (Ensembl ENST00000418929.6 or NM_020719 - short : ENST00000615927.1) with a single one affecting both.

PRR12 appears to be intolerant to loss-of-function muatations (pLI of 1). Some LoF variants exist in ExAC/gnomAD although the majority appear to be low-quality variants.

As commented by the authors 2 individuals with de novo variants exist in Decipher (1 in-frame deletion and a missense SNV - both variants appear in fig.2 of the article) [a few more DDD study participants in the denovo-db all from PMID: 28135719 : http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=PRR12].

Alternative explanations for the phenotype (eg. CHARGE syndrome, etc) were ruled out in many individuals in the article.

Functional studies have not been performed. //

PMID: 26163108 (Córdova-Fletes al. 2015) is a previous report cited by Leduc et al. One individual with balanced translocation [t(10;19)] with disruption of PRR12 is described. This individual presented with ID and behavioral anomalies (without details on eventual coloboma or other iris anomalies).

The translocation was balanced and led to fusion of PRR12 with LMIZ1. The breakpoint was located within intron 11 (PRR12 is a 14-exon gene) with fusion of PRR12 exon 11 with ZMIZ1 exon 8 upon RT-PCR. Both PRR12/ZMIZ1 products were predicted to be truncated due to frameshift and introduction of premature stop codon.

[Surprisingly qPCR and Western blot in patient LCLs were suggestive of increased PRR12 expression compared to controls suggesting either a compensation mechanism or longer half-life/accumulation of the aberrant PRR12].

Expression of wt PRR12 was highest during embryonic development in mouse/rat brain cells suggesting a role in early CNS development. The transcript studied (corresponding to the longest human transcript) was exclusively located in the nucleus compared to a shorter one located primary in the nucleus but also outside suggesting that PRR12 might be involved in regulation of transcription.

In line with this several genes linked to neurodevelopmental processes/neuronal communication appeared be dysregulated in lymphoblastoid cell lines (LCLs) from the translocation patient.

A role for ZMIZ1 is similarly discussed. //

PRR12 is included in gene panels for ID offered by diagnostic laboratories. //

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.564 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v2.564 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Intellectual disability v2.562 CAD Konstantinos Varvagiannis gene: CAD was added
gene: CAD was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 28007989
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50 - MIM 616457
Penetrance for gene: CAD were set to Complete
Review for gene: CAD was set to AMBER
gene: CAD was marked as current diagnostic
Added comment: Biallelic pathogenic variants in CAD cause Epileptic encephalopathy, early infantile, 50 - MIM 616457.

Overall 5 individuals from 4 unrelated families have been reported in detail in PMIDs 25678555 and 28007989 (table 1 in this article provides a summary).

The phenotype consisted of developmental delay which preceded the onset of seizures (6 months to 2 years) and hematologic anomalies (anemia and anisopoikilocytosis). The patients presented developmental stagnation/regression, which in most cases occurred several months following the seizure onset.

CAD is a tri-functional protein catalyzing the first 3 steps of the de novo pyrimidine biosynthesis.

In total, 5 variants have been reported (2 missense, 1 nonsense and 2 splice-site SNVs) with functional studies (cDNA, metabolites) supporting pathogenicity and disruption of this pathway.

CAD mutations have previously been studied in other model organisms.

Mutations in enzymes catalyzing downstream steps of the same pathway are associated with other syndromes.

The disorder appears to be amenable to dietary intervention (uridine supplementation).

CAD is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result, this gene can be considered for inclusion in the ID panel as amber or green.
Sources: Literature
Intellectual disability v2.562 PHF21A Konstantinos Varvagiannis reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770980, 30487643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.562 RALA Konstantinos Varvagiannis gene: RALA was added
gene: RALA was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RALA were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of nervous system morphology
Penetrance for gene: RALA were set to unknown
Mode of pathogenicity for gene: RALA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RALA was set to GREEN
Added comment: Hiatt et al. (doi.org/10.1371/journal.pgen.1007671) report on 11 individuals (incl. a pair of monozygotic twins) from 10 unrelated families, most (10/11) with de novo mutations in RALA.

DD/ID was a prominent feature (the authors note that ID was specifically noted in 8 but could not be excluded in 3 further individuals who appear to be very young in the table). Structural brain anomalies (9/11), seizures (6/11) and common facial features were also noted.

RALA belongs to the RAS superfamily of small GTPases.

5 different de novo missense variants and 1 in-frame deletion, all within a GTP/GDP binding region of RALA (although appart in the protein primary structure) were observed. 7 occurrences of missense variants concerned Val25 and Lys128 (V25M, V25L, K128R), one Asp130 (D130G) and a further one Ser157 (S157A). The in-frame deletion concerned Ala158.

Missense variants in corresponding positions of RAS proteins (HRAS/KRAS/NRAS) have been reported in RASopathies, while the authors observed some phenotypic overlap with the latter group of disorders (DD/ID, growth delay, macrocephaly, high forehead and position of ears).

Functional studies demonstrated reduction in GTPase activity (for all variants) and altered RALA effector binding (for most reduction - in the case of S157A, increase).

Several lines of evidence are provided to show that alteration of the GTP/GTP-binding rather than a dosage effect is considered the likely mechanism. RALA is depleted in missense mutations in its GTP/GDP binding domain.

For these reasons and others (segregation studies not possible, variant observed 2x in Bravo database, phenotypic differences compared to the rest of the cohort, ROH suggesting parental consanguinity in the specific individual) the single nonsense variant (R176X) reported in the study is considered a VUS.

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature
Intellectual disability v2.562 RORB Louise Daugherty gene: RORB was added
gene: RORB was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORB were set to 27352968; 24355400
Phenotypes for gene: RORB were set to generalized epilepsies with predominant absence seizures, intellectual disability
Review for gene: RORB was set to RED
Added comment: PMID 27352968 identified a patient with intellectual disability and a balanced translocation where one breakpoint truncates RORB and also found two de novo deletions in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion.
Sources: Literature
Intellectual disability v2.561 MAB21L1 Konstantinos Varvagiannis gene: MAB21L1 was added
gene: MAB21L1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 27103078
Phenotypes for gene: MAB21L1 were set to Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
gene: MAB21L1 was marked as current diagnostic
Added comment: Bruel et al. (PMID: 27103078) report on a boy, born to consanguineous Algerian parents, homozygous for a frameshift MAB21L1 variant.

Rad et al. (http://dx.doi.org/10.1136/jmedgenet-2018-105623) describe 10 additional individuals from 5 unrelated consanguineous families (from Iran, Lebanon and Turkey). These subjects were homozygous for truncating variants appart from a patient with a missense one [NM_005584.4:c.698A>C or p.(Gln233Pro)].

All 11 individuals presented with a common phenotype consisting of DD/ID (in 9/11 for whom this information was available), cerebellar, ocular and genital anomalies as well as similar facial features.

In total 6 different variants (5 truncating and 1 missense SNV) have been reported. There are no functional studies performed appart from in silico visualisation for the missense variant and protein interaction network analysis for MAB21L1. Previous studies in Mab21l1 knockout mice suggest ocular as well as preputial gland anomalies.

ID appears to be a feature for biallelic mutations in MAB21L2, another member of the male abnormal 21 (MAB21)-like proteins (gene rated green in this panel - associated phenotype : Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM 615877).

MAB21L1 is included in gene panels for intellectual disability offered by some diagnostic laboratoires.

As a result, this gene can be considered for inclusion in this panel as green (or amber)
Sources: Literature, Expert Review
Intellectual disability v2.561 COASY Louise Daugherty Phenotypes for gene: COASY were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Neurodegeneration with brain iron accumulation 6, 615643
Intellectual disability v2.560 SCAPER Louise Daugherty Classified gene: SCAPER as Green List (high evidence)
Intellectual disability v2.560 SCAPER Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association in view of new publication Tatour et al. (2017) PMID: 28794130
Intellectual disability v2.560 SCAPER Louise Daugherty Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability v2.559 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: GREEN
Intellectual disability v2.559 SCAPER Louise Daugherty Publications for gene: SCAPER were set to 21937992; 28794130
Intellectual disability v2.558 FMR1_CGG Ellen McDonagh Tag currently-ngs-unreportable tag was added to STR: FMR1_CGG.
Intellectual disability v2.558 DOCK6 Konstantinos Varvagiannis reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25824905, 27077170; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.558 KMT2B Konstantinos Varvagiannis reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29697234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.558 ODC1 Konstantinos Varvagiannis gene: ODC1 was added
gene: ODC1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ODC1 were set to 30239107; 30475435
Phenotypes for gene: ODC1 were set to Global developmental delay; Intellectual disability; Macrocephaly; Alopecia; Ectodermal dysplasia
Penetrance for gene: ODC1 were set to unknown
Review for gene: ODC1 was set to GREEN
Added comment: PMIDs 30239107 and 30475435 report on 5 cases of de novo truncating ODC1 variants in unrelated families. One concerned a stillborn male. The 4 remaining individuals presented with a similar phenotype consisting of alopecia and other ectodermal anomalies, DD/ID, relative or absolute macrocephaly and common facial features. DD/ID was severe in some instances and many of these individuals had extensive prior testing for other disorders (Fragile-X, PTEN, SLC2A1, chromosomal disorders, etc).

ODC1 (ornithine decarboxylase 1) converts enzymatically ornithine to putrescine. All variants reported to date are truncating but lead to gain-of-function. Specifically they affect a 37 amino acid c-terminal destabilization region critical for the degradation of ODC1 and - as a result - lead to increased levels of ODC1 as well as putrescine.

A mouse model with identical phenotype has been described several years ago.

The role of ODC inhibitors is extensively discussed in both publications.

As a result, ODC1 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.558 FBXL3 Konstantinos Varvagiannis gene: FBXL3 was added
gene: FBXL3 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to 30481285
Phenotypes for gene: FBXL3 were set to Intellectual disability; Short stature
Penetrance for gene: FBXL3 were set to Complete
Review for gene: FBXL3 was set to GREEN
Added comment: Ansar et al. (PMID: 30481285) report on 8 individuals from 3 consanguineous families, all homozygous for FBXL3 variants.

The phenotype consisted of mild to severe intellectual disability (8/8), short stature (8/8) with a few common facial features.

In the first family - from Pakistan - all affected individuals were homozygous for a frameshift variant. The 2 sibs from the second family (from Lebanon) were homozygous for a nonsense variant. A further patient, born to distantly related parents from Italy, was found to harbor a missense variant [NM_012158.2:c.1072T>C or p.(Cys358Arg)] in the homozygous state.

FBXL3 is part of an ubiquitin ligase complex that binds the central clock protein cryptochromes (CRY1/2) mediating their degradation. Cys358Arg concerns the same codon as a similar - previously studied - variant (Cys358Ser) reported to affect the mouse circadian rhythm. Disturbance of circadian rhythm was observed in the patient with the Cys358Arg variant.

As previously demonstrated for mutations of the same codon and in line with a pathogenic role for this variant, in silico studies predict impaired interaction of FBXL3 with CRY2. It is proposed that the nonsense and frameshift variants lead to a similar effect due to severe truncation of the protein (upstream of leucine-rich domains important for this interaction).

The authors note that other F-box proteins are implicated in intellectual disability (as in the case of FBXO11 and FBXL4, both rated green in this panel).

As a result, FBXL3 can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.558 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000; FUCOSIDOSIS (FUCA1D) to Fucosidosis, 230000; FUCOSIDOSIS (FUCA1D); intellectual disability
Intellectual disability v2.557 FUCA1 Louise Daugherty Publications for gene: FUCA1 were set to
Intellectual disability v2.556 DDX59 Konstantinos Varvagiannis gene: DDX59 was added
gene: DDX59 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 23972372; 28711741; 29127725
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300
Penetrance for gene: DDX59 were set to Complete
Review for gene: DDX59 was set to GREEN
Added comment: Biallelic mutations in DDX59 cause Orofaciodigital syndrome V, 174300.

PMID: 23972372 reports on 6 individuals from 2 consanguineous Arab families. All 6 presented with palatal anomalies (cleft palate or bifid uvula), lobulated tongue, facial anomalies (frontal bossing and hypertelorism) as well as intellectual disability.

Individuals from the first family were homozygous for the Val367Gly (NM_001031725.4:c.1100T>G) variant while those from the second were homozygous for Gly534Arg (NM_001031725.4:c.1600G>A), both predicted to be pathogenic in silico. Immunoblot demonstrated reduced levels of the Val367Gly variant in patient fibroblasts (the other variant was probably not tested). Ddx59 was shown to be expressed in lips, palatal shelves and developing limb buds of mouse embryos.

PMID: 28711741 describes 3 further patients (from two consanguineous Pakistani families), presenting the cardinal features of orofaciodigital syndrome (though polydactyly was only reported in one of the three). Developmental delay was reported in all (in the first family one of the sibs had more severe delay with no speech at the age of 7 years, in the patient from the other family speech was limited to 2 words at school age). Affected individuals from both families were found to harbor a SNV leading to loss of a stop codon, thus extending the reading frame by 21 codons.

PMID: 29127725 reports on two sibs with a diagnosis of orofaciodigital syndrome born to non-consanguineous parents. ID was a feature in both. These individuals were homozygous for a frameshift variant. Reverse transcription PCR/semiquantitative PCR demonstrated reduction of the mutant transcript compared to the levels in wt controls (suggestive of incomplete NMD). Functional studies showed possible perturbation of the Sonic Hedgehog pathway. DDX59 expression in CNS from control post-mortem human brains was confirmed to be high (based on data generated in a previous study). Studies in Drosophila suggest reduced lifespan and neuronal defects secondary to mutations in mahe (the Drosophila homolog of DDX59).

As a result this gene can be considered for inclusion in the ID panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.556 DPH1 Konstantinos Varvagiannis gene: DPH1 was added
gene: DPH1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH1 were set to 25558065; 26220823; 29362492; 29410513
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901
Penetrance for gene: DPH1 were set to Complete
Review for gene: DPH1 was set to GREEN
gene: DPH1 was marked as current diagnostic
Added comment: Biallelic mutations in DPH1 cause Developmental delay with short stature, dysmorphic features, and sparse hair, MIM 616901.

Overall 11 patients from 6 different families have probably been reported in detail. DD/ID is a universal feature.

In PMID 25558065, Alazami et al. identified 1 patient from the same consanguineous Saudi Arabian family (of 8 total similarly affected individuals) homozygous for the Leu234Pro (NM_001383.3:c.701T>C) variant. This individual was part of a large cohort of patients with neurogenetic disorders from consanguineous families. The phenotype is not described in detail.

In PMID 26220823 Louks et al. report on 4 patients from 3 families belonging to the same genetic isolate from North America and provide details on 4 of the individuals identified by Alazami et al.

The individuals identified in this study were homozygous for Met6Lys which was however predicted to be benign and tolerated (by PolyPhen2 and SIFT respectively) in silico.

DD/ID, unusual skull shape, ectodermal anomalies were universal (8/8) with additional features including short stature (7/8), renal (4/6) or cardiac anomalies (3/8). Some facial features appeared to be common, too.

Functional studies were not performed. However Dph1 pathogenic variants in mice result in restricted growth, craniofacial and developmental defects similar to the human phenotypes (PMIDs 14744934 and 24895408 are cited).

PMIDs 29362492 and 29410513 report on 3 further patients with similar (as well as some additional) features including DD/ID. The individual in the first article was compound heterozygous for a missense (Leu164Pro) and a frameshift variant (c.289delG) while 2 sibs born to consanguineous parents in the second article were homozygous for a frameshift variant (c.1227delG).

The phenotype appears to be consistent among all the published patients.

DPH1 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.556 RARS2 Sarah Leigh Publications for gene: RARS2 were set to
Intellectual disability v2.555 COG6 Konstantinos Varvagiannis gene: COG6 was added
gene: COG6 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 26260076; 20605848; 23430903; 23606727; 28139241; 28742265; 29445937; 29709711
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328
Penetrance for gene: COG6 were set to Complete
Review for gene: COG6 was set to GREEN
gene: COG6 was marked as current diagnostic
Added comment: DD/ID is an almost universal feature of individuals with biallelic COG6 mutations, whether this is associated with a type II transferrin IEF pattern (as in Congenital disorder of glycosylation, type IIl, 614576) or not (as in Shaheen syndrome, 615328).

More than 15 patients from several different families have been reported to date.

PMID: 26260076 is a collaborative study reporting on new patients as well as on individuals previously described up to 2015 by Lubbehusen et al. (2010 - PMID: 20605848), Huybrechts et al. (2012 - PMID: 23430903) as well as Shaheen et al. (2013 - PMID: 23606727).

As summarized in table 1 of this article, developmental disability was a feature in 8/10, although for a further 2/10 this was probably not relevant (both deceased too early).

The following articles are additional reports although there might be some overlap (applicable for the Saudi patients) : PMIDs: 28139241 (individuals with diagnosis of CDG from Spain), 28742265 (cohort of CDG patients from Saudi Arabia), 29445937 (case report of Saudi subject), 29709711 (Chinese individual with COG6-CDG).

All types of variants have been observed including missense, stopgain and frameshift ones, as well as variants leading to aberrant splicing [eg. positions -2, -9, -24]. The deep intronic variant (position -24) in the individuals reported by Shaheen and others is considered a founder mutation in the Saudi population.

Individuals homozygous for the latter variant have detectable levels of the normal transcript, although 75% of the produced transcript (upon RT-PCR analysis) correspond to retention of 37 intronic nucleotides leading to frameshift and introduction of a premature stop codon. This was also confirmed with Western blot.

Given the detectable levels of the normal transcript, it has been proposed that Shaheen syndrome represents the mildest end of the spectrum COG6-related disorders.

COG6 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.555 TELO2 Konstantinos Varvagiannis gene: TELO2 was added
gene: TELO2 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 27132593; 28944240
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM 616954
Penetrance for gene: TELO2 were set to Complete
Review for gene: TELO2 was set to GREEN
gene: TELO2 was marked as current diagnostic
Added comment: Biallelic mutations in TELO2 cause You-Hoover-Fong syndrome (MIM 616954). //

PMID: 27132593 reports on 6 patients (from 4 non-consanguineous families) with biallelic TELO2 variants and a similar phenotype.

Intellectual disability and microcephaly were universal features (6/6). Abnormal hearing (3/6), cortical visual impairment (3/6), abnormality of the cardiovascular system (3/6), behavioral problems (laughter outbursts in 3/6) and abnormal balance and movement disorder (6/6) were part of the phenotype. One individual had seizures.

5 missense variants and a complex allele with a stopgain variant localized in cis with a splice-site variant (NM_016111.3:c.514C>T or p.Gln172* in cis with c.2034+1G>A) are reported.

As a result heterozygosity for the complex variant may be confounded with compound heterozygous state until segregation studies are performed.

Functional studies support pathogenicity of the missense variants (reduced protein steady-state levels of TELO2 as well as TTI1 and TTI2 - the 2 other members of the TTT complex) suggesting loss of function.

PMID: 28944240 reports on 2 sisters born to non-consanguineous parents. Both were compound heterozygous for 2 novel variants, a missense and a frameshift one. Severe microcephaly (-8.5 SD and -10.7 SD) and seizures were noted in both. The first sister passed away at the age of 2 months due to a respiratory infection. The other sister demonstrated a compatible, though much more severe phenotype (of ID, dwarfism, retinitis pigmentosa, etc) compared to previously reported patients. //

Biallelic mutations in TTI2 (of the same complex) lead to similar phenotypes (gene rated green in the ID panel). //

TELO2 is included in gene panels for intellectual disability offered by different diagnostic laboratories. //

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.555 TTI2 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.555 TTI2 Konstantinos Varvagiannis reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956177; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.555 BRD4 Konstantinos Varvagiannis gene: BRD4 was added
gene: BRD4 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRD4 were set to 29379197; 30055032; 30302754
Phenotypes for gene: BRD4 were set to Intellectual disability; Microcephaly; Abnormal heart morphology; Abnormality of the face
Penetrance for gene: BRD4 were set to unknown
Review for gene: BRD4 was set to GREEN
gene: BRD4 was marked as current diagnostic
Added comment: PMID: 29379197 reports on 3 unrelated individuals with de novo mutations in BRD4 and a Cornelia de Lange-like phenotype. One of these individuals was a DDD study participant (DDD4K.04273). A further (fourth) individual had a 1.04 Mb deletion encompassing BRD4 (and 28 other genes) and presented with a similar phenotype.

Appart from intellectual disability which was a universal feature common features included a CdLS-like appearance (3/4), microcephaly (3/4) and cardiac malformations (VSD in 2/4).

Review of published patients with multigenic deletions spanning also BRD4 support a CdLS-like phenotype as well as haploinsufficiency as the underlying mechanism.

As the authors note, mice heterozygous for loss-of-function mutations in BRD4 show CdLS like features.
Functional studies performed demonstrated association of BRD4 with NIPBL with colocalization (/shared binding) to super-enhancers and co-regulation of gene expression.

The variants reported in this study included a missense as well as 2 frameshift mutations.

PMIDs: 30055032 and 30302754 report further patients with deletions spanning BRD4 and review the previously published patients.

BRD4 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.555 ATP8A2 Konstantinos Varvagiannis reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22892528, 27679995, 30012219, 29531481; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.555 MACF1 Konstantinos Varvagiannis gene: MACF1 was added
gene: MACF1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MACF1 were set to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia
Penetrance for gene: MACF1 were set to unknown
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Dobyns et al. (doi.org/10.1016/j.ajhg.2018.10.019) report on 9 individuals (all unrelated appart from a pair of monozygotic twins) with de novo variants in MACF1.

All patients presented lissencephaly and brainstem hypoplasia with associated intellectual disability (9/9) and seizures (9/9).

Seven of these individuals had de novo missense variants within the GAR domain and an eighth had a deletion of several exons also spanning this domain and leading to an in-frame deletion. A further ninth patient had a de novo missense variant in the spectrin repeat domain and was found to have similar features although the brainstem dysplasia was rather subtle.

5 missense variants (4 of which in the GAR domain) and an intragenic deletion are reported in total.

The variants in the GAR domain were predicted to have important effect in the zinc-binding pocket. The spectrin repeat (SR4) is thought to have an important role for the function of MACF1 and further to neuronal migration.

Knockdown of Macf1 in mice has been shown to result in developmental defects similar to the human malformation.

The authors note that several high-confidence loss-of-function mutations are listed in ExAC and as a result this type of variants could be non-pathogenic (or lead to neurodevelopmental disorders with reduced penetrance). Still MACF1 has a pLI of 1.0.

As for the missense variants, the authors suggest either a gain-of-function or dominant negative mechanism.

Caution should be taken when interpreting variants as the ENST00000372915.7 (or MACF1-204) transcript is used for the predicted protein changes, although ENST00000361689.6 or MACF1-203 (corresponding to NM_012090.5) has also been used in some tables or figures.

As a result, this gene can be considered for inclusion in this panel probably as green.
Sources: Literature, Expert Review
Intellectual disability v2.555 GABRB2 Louise Daugherty commented on gene: GABRB2: New gene added by external expert and reviewed by curation team. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association and to rate this gene as Green
Intellectual disability v2.555 GABRB2 Louise Daugherty Deleted their comment
Intellectual disability v2.555 GABRB2 Louise Daugherty Classified gene: GABRB2 as Green List (high evidence)
Intellectual disability v2.555 GABRB2 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Intellectual disability v2.555 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Intellectual disability v2.554 PHACTR1 Konstantinos Varvagiannis reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30256902, 23033978, 28135719; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.554 GABRB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Intellectual disability panel
Intellectual disability v2.554 GABRB2 Louise Daugherty Phenotypes for gene: GABRB2 were changed from intellectual disability to Epileptic encephalopathy, infantile or early childhood, 2, 617829; intellectual disability
Intellectual disability v2.553 SCAPER Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Intellectual disability v2.553 SCAPER Louise Daugherty Publications for gene: SCAPER were set to 21937992
Intellectual disability v2.552 SCAPER Louise Daugherty edited their review of gene: SCAPER: Changed rating: AMBER
Intellectual disability v2.552 SCAPER Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.
Intellectual disability v2.552 SCAPER Louise Daugherty Phenotypes for gene: SCAPER were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Intellectual developmental disorder and retinitis pigmentosa, 618195
Intellectual disability v2.551 NUDT2 Konstantinos Varvagiannis gene: NUDT2 was added
gene: NUDT2 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability
Penetrance for gene: NUDT2 were set to Complete
Review for gene: NUDT2 was set to AMBER
Added comment: PMID: 27431290 reports briefly on 2 sibs from a consanguineous Saudi family, as part of a cohort of 337 patients investigated for intellectual disability. Both were homozygous for a nonsense NUDT2 mutation [NM_001161.4:c.34C>T or p.Arg12Ter / rs148119952]. The common features included hypotonia, global developmental delay (first words at 2.5 years, sitting at 2-2.5 years,walking achieved by 4 years - valid for both sibs) and intellectual disability. No other candidate variants were found in the exome.

PMID: 30059600 is a further report on 5 individuals from 3 consanguineous families from Saudi Arabia. All presented with low birth weight and height, poor suck, hypotonia, motor and language delay and borderline intelligence. All patients were homozygous for the same nonsense variant (Arg12Ter) which seems to be a founder mutation in Saudi Arabia.

As truncating NUDT2 variants have a combined allele frequency of 0.02% in gnomAD (no homozygotes in the database) the authors comment that most of the other LoF variants observed are in the second - and last - exon of the gene (thus probably escaping NMD) and downstream of its catalytic domain.

As a result this gene can be considered for inclusion in the ID panel probably as amber (single founder mutation - the degree of intellectual disability appears to be more severe in the first report but borderline in the subsequent) or green.
Sources: Literature, Expert Review
Intellectual disability v2.551 GFAP Louise Daugherty Publications for gene: GFAP were set to
Intellectual disability v2.550 UFM1 Konstantinos Varvagiannis reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy hypomyelinating 14, 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.550 UFM1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.550 UFM1 Konstantinos Varvagiannis gene: UFM1 was added
gene: UFM1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: UFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 28931644; 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy hypomyelinating 14, 617899
Penetrance for gene: UFM1 were set to Complete
Review for gene: UFM1 was set to GREEN
Added comment: Biallelic UFM1 mutations cause Leukodystrophy hypomyelinating 14, MIM 617899.

PMID: 28931644 is the first report on 16 individuals from 14 families with shared Roma ethnic background. All subjects were found to harbor a UFM1 promoter 3 basepair deletion in the homozygous state.

All patients demonstrated a severe phenotype including lack of development and severe epileptic encephalopathy while their MRI images demonstrated hypomyelination with atrophy of the basal ganglia and the cerebellum.

The promoter deletion was detected by exome sequencing. Previously a 0.8 Mb homozygous region was identified to be shared by all the patients in whom a SNP array was performed. Alternative causes, notably TUBB4A mutations and deletions/duplications were excluded. 3 individuals had Sanger sequencing of all coding regions within the homozygous interval to rule out other - eventually missed - variants.

PMID: 29868776 reports 4 additional individuals from 2 consanguineous families (one from Ethiopia, for the other this was not specified). All 4 patients were homozygous for the c.241C>T (NM_016617.3) or p.(Arg81Cys) variant which was shown to be hypomorphic upon functional studies.

The phenotype consisted of developmental delay (4/4 or 20/20 including the patients from the previous report with which comparison is made in table 2 of the article) with microcephaly (4/4 or 20/20) and seizures (4/4 or 16/20) as well as MRI abnormalities. Failure to thrive and/or short stature were also among the most common features.

UFM1 (as well as UFC1 also discussed in the same article) participate in ufmylation, with mutations in other enzymes of the same process (notably UBA5 - gene rated Green in the ID and epilepsy panels) having already been described in neurodevelopmental disorders.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.550 GLB1 Louise Daugherty Publications for gene: GLB1 were set to
Intellectual disability v2.549 CSNK2B Rebecca Foulger Phenotypes for gene: CSNK2B were changed from to Intellectual disability with or without myoclonic epilepsy
Intellectual disability v2.548 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to 28585349, 28762608
Intellectual disability v2.547 CSNK2B Rebecca Foulger Classified gene: CSNK2B as Green List (high evidence)
Intellectual disability v2.547 CSNK2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: As summarised by Zornitza, three unrelated patients reported in the literature (one in PMID:28762608 and two in PMID:28585349) with intellectual disability and de novo variants in CSNK2B (splice variant and a frameshift truncating variant). Two of the patients also had monoclonic epilepsy.
Intellectual disability v2.547 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Green List (High Evidence).
Intellectual disability v2.546 CSNK2B Rebecca Foulger Mode of inheritance for gene: CSNK2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.545 UFC1 Konstantinos Varvagiannis gene: UFC1 was added
gene: UFC1 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFC1 were set to 29868776
Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076
Penetrance for gene: UFC1 were set to Complete
Review for gene: UFC1 was set to GREEN
Added comment: Biallelic UFC1 mutations cause Neurodevelopmental disorder with spasticity and poor growth, MIM 618076.

PMID: 29868776 describes 7 individuals (most) born to consanguineous Saudi families (in one case the parents were not consanguineous but originated from the same tribe) as well as a further individual born to distantly related Swiss parents. One of these patients was previously briefly published by the same authors (PMID: 27431290).

The phenotype consisted of developmental delay (8/8 - usually profound), failure to thrive (8/8), short stature and microcephaly (both observed in 7/8), seizures (4/8) and variable brain MRI anomalies in some of these subjects.

Overall, two UFC1 missense variants are reported [NM_016406.3:c.317C>T or p.(Thr106Ile) and c.68G>A or p.(Arg23Gln) the former in the Saudi individuals]. Functional studies demonstrated the hypomorphic nature of the variants.

UFC1 (as well as UFM1 also discussed in the same article) participate in ufmylation, with mutations in other enzymes of the same process (notably UBA5 - gene rated Green in the ID and epilepsy panels) having already been described in neurodevelopmental disorders.

As a result this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.545 CCDC88A Konstantinos Varvagiannis reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.545 EIF3F Louise Daugherty Classified gene: EIF3F as Green List (high evidence)
Intellectual disability v2.545 EIF3F Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.545 EIF3F Louise Daugherty Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability v2.544 RHOBTB2 Louise Daugherty Classified gene: RHOBTB2 as Green List (high evidence)
Intellectual disability v2.544 RHOBTB2 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.544 RHOBTB2 Louise Daugherty Gene: rhobtb2 has been classified as Green List (High Evidence).
Intellectual disability v2.543 RHOBTB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Intellectual disability panel
Intellectual disability v2.543 RHOBTB2 Louise Daugherty Phenotypes for gene: RHOBTB2 were changed from Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly to Epileptic encephalopathy, early infantile, 64, 618004; Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly
Intellectual disability v2.542 Ellen McDonagh List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing; GMS R29
Intellectual disability v2.542 RHOBTB2 Louise Daugherty commented on gene: RHOBTB2
Intellectual disability v2.541 FUT8 Louise Daugherty Classified gene: FUT8 as Green List (high evidence)
Intellectual disability v2.541 FUT8 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.541 FUT8 Louise Daugherty Gene: fut8 has been classified as Green List (High Evidence).
Intellectual disability v2.540 FUT8 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the intellectual disability panel
Intellectual disability v2.540 FUT8 Louise Daugherty Phenotypes for gene: FUT8 were changed from Congenital disorder of glycosylation with defective fucosylation, 618005 to Congenital disorder of glycosylation with defective fucosylation, 618005; Intellectual disability
Intellectual disability v2.539 FUT8 Louise Daugherty Publications for gene: FUT8 were set to 29304374
Intellectual disability v2.538 ATP6V1A Louise Daugherty Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability v2.538 ATP6V1A Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.538 ATP6V1A Louise Daugherty Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability v2.537 GNB5 Konstantinos Varvagiannis gene: GNB5 was added
gene: GNB5 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182
Penetrance for gene: GNB5 were set to Complete
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Biallelic GNB5 pathogenic variants cause Intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182).

PMID: 27523599 is the first report on the associated phenotype. A total of 9 individuals from 6 different families (from various ethnic backgrounds) are described.

The common features included hypotonia (noted in 6 out of 9 patients), intellectual disability (9/9 - in 3 cases mild, in 6 severe), heart rate disturbance (9/9 - in most cases sick sinus syndrome), seizures (4/9), ophthalmological problems (nystagmus in 6 out of 7 for whom this information was available) as well as gastric problems (5/8 with G-E reflux).

The 6 variants (summarized in table S1) included : 2 nonsense mutations, 1 synonymous (demonstrated to affect splicing and leading to retention of 25 intronic bp), 2 further splice variants (positions +1 and +3) and a missense one (S81L).

Nonsense mediated decay was the case for the product of the synonymous/splice variant as well as for a stopgain one.

As noted by the authors, individuals homozygous for the S81L variant had a less severe phenotype - among others - with mild degree of intellectual disability.

Functional studies included knockout of gnb5 in zebrafish, which was able to reproduce the human neurological, cardiac and ophthalmological phenotypes.

Alternative causes for these phenotypes (incl. chromosomal or metabolic disorders) were ruled out.

Affected individuals might benefit interventions for their heart rate disturbance as appears to be the case in the article as well as subsequent studies.

PMID: 27677260 describes an extended consanguineous Saudi family with 5 individuals homozygous for the S81L variant. Common features included severe language delay, ADHD, but normal cognition in those available for evaluation. Seizures were not reported. Pathogenicity of the S81L variant is further supported by functional studies.

PMID: 28697420 describes in detail 2 individuals from a large consanguineous pedigree confirmed to be homozygous for a single nucleotide deletion in GNB5. The phenotype included severe DD/ID, seizures, sinus bradycardia with frequent sinus pauses and ophthalmological problems. Sinus arrhythmia and or seizures were documented in several other relatives deceased and unavailable for testing.

PMID: 28327206 reports on 2 subjects previously included in PMID: 27523599.

PMID: 29368331 describes a child with severe developmental delay, nystagmus and sinus arrhythmia necessitating a pacemaker. EEG was abnormal although no frank seizures were observed. The child was compound heterozygous for a novel missense variant (R246Q) as well a 5 basepair deletion.

GNB5 is included in diagnostic gene panels for intellectual disability offered by different laboratories.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.537 ATP6V1A Louise Daugherty Phenotypes for gene: ATP6V1A were changed from # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3 to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Intellectual disability v2.536 ATP6V1A Louise Daugherty commented on gene: ATP6V1A
Intellectual disability v2.536 ATP1A1 Louise Daugherty Classified gene: ATP1A1 as Green List (high evidence)
Intellectual disability v2.536 ATP1A1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.536 ATP1A1 Louise Daugherty Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability v2.535 ATP1A1 Louise Daugherty commented on gene: ATP1A1
Intellectual disability v2.535 KDM5B Konstantinos Varvagiannis reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30409806; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.535 EIF3F Konstantinos Varvagiannis gene: EIF3F was added
gene: EIF3F was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment
Penetrance for gene: EIF3F were set to Complete
Review for gene: EIF3F was set to GREEN
Added comment: EIF3F was identified in a recent DDD publication (PMID: 30409806) as a cause of autosomal recessive intellectual disability.

All 9 individuals reported were homozygous for a missense variant (Phe232Val - rs141976414) which has a frequency of 0.12% in non-Finnish Europeans.

Features included intellectual disability (9/9), seizures (6/9), behavioral problems (3/9) and sensorineural hearing loss (3/9). Facial features were not specific.

Extensive functional studies were performed and support pathogenicity of the variant in the homozygous state (reduced protein levels, reduced translation rate in line with the role of EIF3F encoding a subunit for eukaryotic translation initiation factor 3, as well as reduced proliferation rates).

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.535 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

As a result this gene can be considered for inclusion in this panel probably as green (3 unrelated families, strong additional functional data, consistent phenotype) or amber.
Sources: Literature, Expert Review
Intellectual disability v2.535 ATP6V1A Konstantinos Varvagiannis gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP6V1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3
Penetrance for gene: ATP6V1A were set to unknown
Review for gene: ATP6V1A was set to GREEN
Added comment: Heterozygous mutations in ATP6V1A cause Epileptic encephalopathy, infantile or early childhood, type 3 (MIM 618012).

PMID: 29668857 reports 4 individuals from 4 families with de novo pathogenic variants in ATP6V1A. The phenotype was consistent with a developmental encephalopathy with epilepsy.

All patients were found to harbor missense variants. The variants resulted in altered lysosomal homeostasis, abnormal neuritogenesis and synaptic density. However in one of the variants tested (p.Asp100Tyr) pathogenicity was mediated by loss-of-function mechanism while for another (p.Asp349Asn) by gain-of-function mechanism.

Differences in severity were noted, with two variants (incl. Asp100Tyr) being associated with a more severe phenotype and the two other (incl. Asp349Asn) with milder degrees of ID and epilepsy.

Biallelic ATP6V1A mutations cause Cutis laxa type IID (MIM 617403). PMID: 28065471 is the first report on 3 individuals from 3 different families (2 of which were consanguineous). All patients were homozygous for ATP6V1A pathogenic variants. All three presented with hypotonia, one (or possibly two) with developmental delay and two with seizures although the developmental phenotype is not further commented on. (Additional patients described in the article harbored mutations in other genes and were not considered).

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.535 ATP1A1 Konstantinos Varvagiannis gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Hypomagnesemia; Seizures; Intellectual disability
Penetrance for gene: ATP1A1 were set to unknown
Review for gene: ATP1A1 was set to GREEN
Added comment: PMID: 30388404 reports on 3 subjects from 3 families with de novo pathogenic variants in ATP1A1. All 3 presented with similar phenotype consisting of hypomagnesemia, early onset refractory seizures as well as intellectual disability.

Alternative causes of hypomagnesemia with seizures (eg. due to TRPM6 mutations) were excluded while the phenotype of the 3 patients differed from similar disorder in that hypomagnesemia as well as seizures were not responsive to magnesium supplementation.

Three different missense variants are reported (L302R, G303R, M859R) all as de novo occurences and after confirmation of paternity.

Functional studies were suggestive of loss of the ATPase function, abnormal cation permeabilities as well as reduced level of expression (the latter was significant for at least for 2 of the 3 variants).

Mutations in ATP1A1 have also been reported in patients with Charcot-Marie-Tooth type 2 (CMT2DD - MIM: 618036) although the variants reported to date map seem to cluster within the helical linker region (residues 592 to 608). The young age of the patients with epilepsy and intellectual disability did not allow conclusions on eventual peripheral neuropathy in these individuals.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.535 GM2A Louise Daugherty Added comment: Comment on publications: added missing publications to support gene-disease association.
Intellectual disability v2.535 GM2A Louise Daugherty Publications for gene: GM2A were set to
Intellectual disability v2.534 Ellen McDonagh List of related panels changed from Coarse facial features including Coffin-Siris-like disorders;ID;Moderate; severe or profound intellectual disability;Schizophrenia plus additional features to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features
Intellectual disability v2.533 Ellen McDonagh List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID;Moderate; severe or profound intellectual disability to Coarse facial features including Coffin-Siris-like disorders;ID;Moderate; severe or profound intellectual disability;Schizophrenia plus additional features
Intellectual disability v2.532 TBR1 Konstantinos Varvagiannis reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30268909, 25356899, 23160955, 22495311, 30250039; Phenotypes: Intellectual disability, Autism, Abnormal cortical gyration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.532 FBXL4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype and MIMid
Intellectual disability v2.532 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Intellectual disability v2.531 NFIB Konstantinos Varvagiannis gene: NFIB was added
gene: NFIB was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Global developmental delay; Intellectual disability; Macrocephaly
Penetrance for gene: NFIB were set to unknown
Review for gene: NFIB was set to GREEN
Added comment: Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency.

10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described.

Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID.

Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex.

While most of the variants occurred as de novo events, a few individuals had inherited a variant (deletion or nucleotide variant) from a similarly affected parent.

As a result, this gene can be considered for inclusion in the ID panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.531 PCGF2 Louise Daugherty edited their review of gene: PCGF2: Changed rating: GREEN
Intellectual disability v2.531 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Intellectual disability v2.530 DCPS Konstantinos Varvagiannis gene: DCPS was added
gene: DCPS was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25712129; 25701870; 30289615
Phenotypes for gene: DCPS were set to Al-Raqad syndrome (OMIM 616459)
Penetrance for gene: DCPS were set to Complete
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: Biallelic pathogenic DCPS variants cause Al-Raqad syndrome (OMIM 616459).

7 patients from 3 families have been reported to date, all summarized in PMID 30289615 (first reports on the disorder - PMIDs : 25712129, 25701870).

Most individuals belong to consanguineous families although a compound heterozygous patient belonging to a broader consanguineous family (in PMID 25701870) and a further individual was born to unrelated parents originating from the same region (in PMID 30289615) have been described.

Overall, 2 splice site and 2 missense variants have been reported. Functional studies were carried out and support pathogenicity of the variants in the first 2 studies.

Developmental delay and intellectual disability are universal features.

DCPS is included in gene panels for intellectual disability offered by different diagnostic labs.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.530 CHD3 Konstantinos Varvagiannis gene: CHD3 was added
gene: CHD3 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD3 were set to 30397230
Phenotypes for gene: CHD3 were set to Global developmental delay; Intellectual disability; Macrocephaly
Penetrance for gene: CHD3 were set to unknown
Review for gene: CHD3 was set to GREEN
Added comment: PMID 30397230 is a collaborative study reporting on the phenotype of 35 individuals including 4 subjects from the DDD study, (most) with de novo mutations in CHD3.

Common features include developmental delay, variable degrees of intellectual disability, impaired speech and language (all 3 were universal features) as well as macrocephaly (in approximately 60%) or vision problems. Widely spaced eyes and high/broad/prominent forehead were among the most constant facial features (noted in around 80% each).

The majority of the variants reported are missense and cluster within the helicase domain although exceptions of missense variants in other domains or loss-of-function variants are provided. A few variants were recurrent and/or concerned the same residue.

Two pairs of affected siblings are reported, in one case this was explained by maternal mosaicism for the mutation.

Perturbed ATPase and/or chromatin remodeling activity relative to wild-type were demonstrated although both gain and loss of these activities were noted depending on the variant tested.

CHD3 is intolerant to both loss-of-function and missense variants (pLI of 1.0 and Z-score of +7.15).

As a result this gene can be considered for inclusion in the ID panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.530 RHOBTB2 Konstantinos Varvagiannis gene: RHOBTB2 was added
gene: RHOBTB2 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004; 29768694; 26740508
Phenotypes for gene: RHOBTB2 were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly
Penetrance for gene: RHOBTB2 were set to unknown
Mode of pathogenicity for gene: RHOBTB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RHOBTB2 was set to GREEN
gene: RHOBTB2 was marked as current diagnostic
Added comment: PMID: 29276004 reports on 10 unrelated patients with de novo pathogenic missense variants in RHOBTB2. The phenotype in all individuals was compatible with a developmental and epileptic encephalopathy including early-onset seizures, severe intellectual disability, postnatal onset microcephaly (6/10) and movement disorders (8/10).

The variants occured as de novo events and clustered within the BTB-domain encoding region (within and between the 2 BTB domains). Three missense variants were recurrent and/or concerned the same residue (p.Arg483His in 4 individuals, Arg511Gln was reported in 2, and Arg511Trp was was found in another 2 individuals).

Functional studies in HEK293 cells suggested increased abundance of the mutant protein secondary to decreased proteasome degradation. Using Drosophila as a model organism, altered expression of RhoBTB (the single ortholog of the 3 vertebrate paralogs, closest to RHOBTB2) was shown to result in neurological phenotypes. RhoBTB overexpression in particular was associated with increased bang sensitivity (which was not the case or milder in the case if knockdown of this gene) and impaired performance upon the negative geotaxis assay, similar to the human neurological phenotypes. Altered RhoBTB dosage was shown to be associated with impaired dendrite development.

As commented by the authors, these results as well as the clustering of missense variants and the pLI score of 0.51 reported for RHOBTB2 are consistent with altered protein function (due to the missense variants) rather than haploinsufficiency or loss-of-function.

PMID: 29768694 describes 3 additional individuals, all found to harbor de novo missense variants again within the BTB-domain encoding region. Two of the variants had been reported in the previous study (Arg511Gln and Arg483His) while the third was a private one (Arg507Cys). The phenotype was similar to the previous descriptions. Functional studies were suggestive of impaired degradation of the mutant protein by the CUL3 complex although this was not secondary to decreased binding with CUL3.

PMID: 26740508 (cited by the two aforementioned publications) reports briefly on an individual with de novo missense variant in the same region of RHOBTB2 (Asn510Asp) and Rett-like phenotype.

RHOBTB2 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result the gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Intellectual disability v2.530 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Intellectual disability v2.530 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Intellectual disability v2.530 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Intellectual disability v2.530 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.529 PIK3CA Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Intellectual disability v2.529 PIK3CA Rebecca Foulger Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Tag watchlist tag was added to gene: ADPRHL2.
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Classified gene: ADPRHL2 as Amber List (moderate evidence)
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer as Amber. However, majority of people have seizures and only a minority have some intellectual component and this seems to later onset /developmental regression, the clinical picture is one of a stress-induced neurodegenerative disease of variable progression with developmental delay, intellectual disability, mild cerebellar atrophy and recurring seizures. However I am not sure if this gene is within the scope of the ID panel and as they all present with seizures so is better presented on Genetic Epilepsy Syndromes panel. So pending further cases/evidence will leave gene as Amber and watchlist
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.527 CUX2 Louise Daugherty Classified gene: CUX2 as Green List (high evidence)
Intellectual disability v2.527 CUX2 Louise Daugherty Added comment: Comment on list classification: More than three unrelated individuals reported in the literature, ID is part of the phenotype. Recent publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.527 CUX2 Louise Daugherty Gene: cux2 has been classified as Green List (High Evidence).
Intellectual disability v2.526 CUX2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM/MIMid and external review
Intellectual disability v2.526 CUX2 Louise Daugherty Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, 618141; Seizures; Intellectual disability; Autistic behavior
Intellectual disability v2.525 CUX2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from publication and external review
Intellectual disability v2.525 CUX2 Louise Daugherty Mode of inheritance for gene: CUX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability v2.524 CUX2 Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviewer which support gene-disease association and rating of this gene to Green. Intellectual disability is a prominent feature, all nine unrelated patients reported by PubMed: 29630738 had severe intellectual disability, and 7 were nonverbal.
Intellectual disability v2.524 CUX2 Louise Daugherty Publications for gene: CUX2 were set to 21331220; 26350204
Intellectual disability v2.523 GTPBP2 Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence)
Intellectual disability v2.523 GTPBP2 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green. At least 4 variants homozygous variants identified in 4 unrelated cases, common features included developmental delay and severe intellectual disability.
Intellectual disability v2.523 GTPBP2 Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence).
Intellectual disability v2.522 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM and MIMid
Intellectual disability v2.522 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome, 617988; Global developmental delay; Intellectual disability; Seizures
Intellectual disability v2.521 IRF2BPL Louise Daugherty Added comment: Comment on phenotypes: added MIMid from OMIM and phenotype data
Intellectual disability v2.521 IRF2BPL Louise Daugherty Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Global developmental delay, Developmental regression, Seizures, Ataxia
Intellectual disability v2.520 IRF2BPL Louise Daugherty Classified gene: IRF2BPL as Green List (high evidence)
Intellectual disability v2.520 IRF2BPL Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.520 IRF2BPL Louise Daugherty Gene: irf2bpl has been classified as Green List (High Evidence).
Intellectual disability v2.519 IRF2BPL Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer. PMID: 30166628 is a recent publication on IRF2BPL-related phenotypes and reports on 11 unrelated individuals with de novo heterozygous truncating variants. Most individuals displayed complex neurological phenotypes, including delayed psychomotor development, variable Intellectual disability, developmental stagnation or cognitive decline preceded, accompanied or followed by the onset of seizures
Intellectual disability v2.519 IRF2BPL Louise Daugherty Publications for gene: IRF2BPL were set to 30057031; 28135719; 25363768
Intellectual disability v2.518 RORA Louise Daugherty Classified gene: RORA as Green List (high evidence)
Intellectual disability v2.518 RORA Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three affected individuals from unrelated families reported with at least 5 variants in this gene being reported, Intellectual disability was reported in the majority of cases and is a main feature of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.518 RORA Louise Daugherty Gene: rora has been classified as Green List (High Evidence).
Intellectual disability v2.517 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability v2.517 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.517 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability v2.516 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Intellectual disability
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants. Gene is also relevant to the ID panel.
Sources: Expert Review
Intellectual disability v2.515 PCGF2 Louise Daugherty Mode of pathogenicity for gene: PCGF2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v2.514 PCGF2 Louise Daugherty Added comment: Comment on publications: Added PMID: 30343942 to support upgrading of this gene to green
Intellectual disability v2.514 PCGF2 Louise Daugherty Publications for gene: PCGF2 were set to 25529582; 25533962
Intellectual disability v2.513 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system to Intellectual disability; dysmorphic features; Global developmental delay; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.512 PCGF2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by external reviewer/ from PMID:30343942
Intellectual disability v2.512 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features to Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.511 PCGF2 Louise Daugherty Classified gene: PCGF2 as Green List (high evidence)
Intellectual disability v2.511 PCGF2 Louise Daugherty Added comment: Comment on list classification: Recent publication suggested by external reviewer PMID: 30343942 supports the rating of this gene to be Green
Intellectual disability v2.511 PCGF2 Louise Daugherty Gene: pcgf2 has been classified as Green List (High Evidence).
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Deleted their comment
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Tag watchlist was removed from gene: PCGF2.
Intellectual disability v2.510 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Intellectual disability v2.510 MUT Louise Daugherty commented on gene: MUT
Intellectual disability v2.510 REEP1 Eleanor Williams Deleted their review
Intellectual disability v2.510 REEP1 Eleanor Williams commented on gene: REEP1
Intellectual disability v2.510 EMC1 Konstantinos Varvagiannis gene: EMC1 was added
gene: EMC1 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875
Penetrance for gene: EMC1 were set to Complete
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Harel et al. (PMID: 26942288) describe 7 individuals from 3 families with biallelic pathogenic variants in EMC1.

In the first family, a single individual (born to non-consanguineous parents) was found to harbor a homozygous frameshift variant in a small (approx. 100 kb) stretch of absence of heterozygosity. The patients in the other two families were homozygous for missense variants (private to each family) in the context of parental consanguinity.

The common phenotype was suggestive of a progressive neurodegenerative disorder and consisted of hypotonia, severe developmental delay with marked speech delay, diminished deep tendon reflexes, cerebellar atrophy, vision as well as skeletal problems. Seizures were a feature in one subject.

One further patient from an additional (fourth) family was found to have a similar but milder phenotype and was only found to harbor a de novo missense variant in EMC1 following trio exome sequencing. Sanger sequencing of the promoter region as well as CNV calling from the exome data failed to reveal other variants in this specific individual.

Similarly to what has been observed in other genes the authors propose that both monoallelic and biallelic pathogenic variants may be causative of the specific phenotype, though the presentation may be more severe in case of biallelic variants.

Altogether this study reports 1 homozygous frameshift and 3 missense variants (2 of the latter found in homozygous state and one as a de novo heterozygous mutation). //

Geetha et al. (PMID: 29271071) describe an individual born to consanguineous parents presenting with hypotonia, developmental delay, and cerebellar atrophy as well as early onset epilepsy. Exome sequencing demonstrated a homozygous splice variant in EMC1. This variant was demonstrated to result to retention of intron 11 upon RNA sequencing. This was predicted to lead to premature truncation of the protein. //

EMC1 is associated in OMIM with Cerebellar atrophy, visual impairment, and psychomotor retardation (MIM 616875) for which an autosomal recessive inheritance mode is retained. //

Apart from the variants reported in the previous studies [p.Pro874Argfs*21, p.Thr82Met, p.Gly868Arg, p.Gly471Arg, c.1212+1G>A - NM_015047.2] further variants have been submitted in ClinVar as likely pathogenic (Variation IDs : 521479, 445564). //

The gene has been included in intellectual disability gene panels offered by a few other diagnostic labs. //

As a result this gene can be considered for inclusion in the panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

---

A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

---

Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

---

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.510 DLG4 Konstantinos Varvagiannis reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29460436, 27479843, 28135719, 23020937; Phenotypes: Intellectual disability, Marfanoid habitus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 PCGF2 Konstantinos Varvagiannis reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 ZNF81 Eleanor Williams Deleted their review
Intellectual disability v2.510 ZNF81 Eleanor Williams reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 12345; Phenotypes: test phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.510 TRIM8 Konstantinos Varvagiannis gene: TRIM8 was added
gene: TRIM8 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Phenotypes for gene: TRIM8 were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: TRIM8 were set to Complete
Review for gene: TRIM8 was set to GREEN
Added comment: PMID: 30244534 is a collaborative study reporting on the phenotype of TRIM8-related epileptic encephalopathy and summarizing the findings in previously published patients. Developmental delay, intellectual disability, seizures are common findings in the 6 unrelated individuals reported. Proteinuria was observed in 3 subjects.

Seizures were universal feature with highly variable age of onset (2 months to 3 years and 5 months).

Several individuals were investigated for developmental delay prior to seizure onset (eg. pat.1 had an MRI at 10 months, sat at 16 months, walked at 22 months and developed seizures at 2 years, pat.3 sat at 12 months, walked at 22 and developed seizures at 3 years and 5 months, pat. 4 and 5 had significant/severe delay prior to the age of 21 months when they started having seizures).

All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.

A previously reported patient (from PMID: 27346735) as well as an individual reported by the Epi4K consortium (PMID: 23934111 - among the co-authors of the present study) are included in the table of this article.

As a result this gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Intellectual disability v2.510 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
gene: VARS was marked as current diagnostic
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 KARS Konstantinos Varvagiannis reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29615062, 30252186, 28496994; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Charcot-Marie-Tooth disease, recessive intermediate, B - 613641, Deafness, autosomal recessive 89 - 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 29255182, 16541367; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
gene: ADAT3 was marked as current diagnostic
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the intellectual disability panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30269351, 28554332, 12746398, 12826745, 11450821, 3377648, 23277425, 22109531, 23153818; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: PMID: 30269351 is a collaborative study reporting in 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Literature, Expert Review
Intellectual disability v2.510 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to GREEN
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Two (or possibly three) of these patients had seizures. Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
gene: PIGG was marked as current diagnostic
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

PIGG has been included in gene panels for intellectual disability offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 MEIS2 Konstantinos Varvagiannis reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30291340, 30055086; Phenotypes: Oral cleft, Abnormal heart morphology, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 MAP1B Konstantinos Varvagiannis gene: MAP1B was added
gene: MAP1B was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 30150678; 29738522
Phenotypes for gene: MAP1B were set to Intellectual disability
Penetrance for gene: MAP1B were set to unknown
Review for gene: MAP1B was set to AMBER
Added comment: In PMID 30150678 the authors report on a family with 5 individuals diagnosed with intellectual disability (ID, IQ <= 70 and associated impairments in adaptive function) and 3 further relatives with IQ below 70, not fulfilling the criteria for a clinical diagnosis of ID. A frameshift variant in MAP1B segregated with the ID/low IQ phenotype. This variant was not found in 31463 Icelanders for whom whole genome sequencing data were available.

The authors confirmed association of MAP1B loss-of-function (LoF) variants by demonstrating the presence of 2 other stopgain mutations in 2 further families. Among the 6 mutation carriers in these families, the average IQ was 81 with 2 of these subjects fulfilling the criteria for intellectual disability. 3 of the 6 mutation carriers had a diagnosis of autism spectrum disorder. Carriers demonstrated 24% less white matter volume (-2.1 SD) and 47% less corpus callosum volume (-2.4 SD) compared to controls.

Mean full-scale IQ, performance IQ and verbal IQ were 68.3 (with a SD of 10.5), 66.4 (SD of 9.3) and 74.5 (SD of 14.8) in MAP1B LoF carriers.

All 3 LoF variants reported result in a truncated but stable MAP1B protein as demonstrated by western blot analysis.

MAP1B undergoes post-translational modification and is cleaved (at position 2206) into a heavy chain and a light chain. The authors note that all LoF variants lead to truncation prior to the cleavage site.

As commented by the authors, LoF variants are found in publicly available databases at a frequency of approx. 1 in 10000.

One individual with de novo frameshift variant in Decipher ( https://decipher.sanger.ac.uk/search?q=gene%3AMAP1B#research-variants/results ).

De novo and inherited MAP1B variants have previously been described in individuals with periventricular nodular heterotopia (PMID: 29738522). This was also a feature in 9 individuals in the previous ID study.

Although PMID 30150678 is entitled "MAP1B mutations cause intellectual disability and extensive white matter deficit", intellectual disability was not a feature in all individuals or was rather mild when present.
Sources: Literature, Expert Review
Intellectual disability v2.510 CAMK2G Konstantinos Varvagiannis reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30184290; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 NSD2 Konstantinos Varvagiannis gene: NSD2 was added
gene: NSD2 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 29892088; 29760529; 29884796; 30244530
Phenotypes for gene: NSD2 were set to Intrauterine growth retardation; Growth delay; Microcephaly; Muscular hypotonia; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: NSD2 were set to unknown
Review for gene: NSD2 was set to GREEN
gene: NSD2 was marked as current diagnostic
Added comment: PMID: 29892088 reports on 2 individuals with de novo SNVs affecting NSD2 (WHSC1). Both individuals presented with pre- and postnatal growth retardation, hypotonia, developmental delay / intellectual disability, as well as microcephaly. The authors suggest partial overlap with the phenotype of Wolf-Hirschhorn syndrome (WHS). Seizures are not part of the phenotype.The first subject had a splice site mutation while the second individual had a stopgain variant (affecting the PWWP domain).

PMID: 29760529 describes a further patient with de novo nonsense mutation in NSD2. The boy was evaluated for probable growth delay ("low physical development"), hypotonia, psychomotor delay and microcephaly. The variant affected the SET domain.

Three individuals with de novo likely loss-of-function (two frameshift and one stop gained) variants in Decipher [ https://decipher.sanger.ac.uk/search?q=NSD2#research-variants/results ].

A further patient with de novo frameshift mutation in NSD2 and a phenotype overlapping WHS reported in ClinVar [ https://www.ncbi.nlm.nih.gov/clinvar/variation/547999/ ]

PMID: 29884796 (Zollino M and Doronzio PN) comments that NSD2 (WHSC1) is a neurodevelopmental gene with a role in growth delay, intellectual disability and dysmorphic facial features.

PMID: 30244530 describes patients with 4p16.3 microdeletions spanning (exclusively) NSD2 and reviews the literature on patients with small microdeletions reported to date. All relevant individuals present with developmental delay and (rather mild) intellectual disability apart from other characteristics such as microcephaly, growth retardation and some facial features also observed in WHS.

In Decipher one individual (286913) with a single CNV spanning exclusively NSD2 presenting with IUGR, failure to thrive, feeding difficulties, postnatal microcephaly, hypotonia, developmental delay as well as possibly relevant facial features.

The gene is included in ID gene panels offered by various labs (either as NSD2 or WHSC1).

As a result it can be considered for inclusion in the panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.510 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Literature, Expert Review
Intellectual disability v2.510 PORCN Ellen McDonagh Added comment: Comment on mode of inheritance: For Focal dermal hypoplasia, heterozygous females are affected. Confirmed with the Genomics England Clinical Team prior to revision from biallelic in females.
Intellectual disability v2.510 PORCN Ellen McDonagh Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v2.509 RAC3 Konstantinos Varvagiannis gene: RAC3 was added
gene: RAC3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC3 were set to 30293988; 29276006
Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: RAC3 were set to unknown
Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RAC3 was set to GREEN
Added comment: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients.

All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance).

Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family.

Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006).

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.509 PCGF2 Louise Daugherty commented on gene: PCGF2: Added watchlist tag.
Intellectual disability v2.509 PCGF2 Louise Daugherty Tag watchlist tag was added to gene: PCGF2.
Intellectual disability v2.509 MSL3 Konstantinos Varvagiannis reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30224647; Phenotypes: Muscular hypotonia, Feeding difficulties, Neurodevelopmental delay, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v2.509 LAMA1 Louise Daugherty Publications for gene: LAMA1 were set to 21937992
Intellectual disability v2.508 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.508 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.508 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient cases
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient cases
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Sufficient cases with appropriate phenotype
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Sufficient cases with appropriate phenotype
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.506 FBXO11 Helen Brittain Marked gene: FBXO11 as ready
Intellectual disability v2.506 FBXO11 Helen Brittain Added comment: Comment when marking as ready: Appropriate phenotype and sufficient cases
Intellectual disability v2.506 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.506 C3orf58 Louise Daugherty commented on gene: C3orf58
Intellectual disability v2.506 C3orf58 Louise Daugherty Tag new-gene-name tag was added to gene: C3orf58.
Intellectual disability v2.506 CHKB Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.506 CHKB Louise Daugherty Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, 602541
Intellectual disability v2.505 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.505 MAPT Louise Daugherty Added comment: Comment on list classification: This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.505 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.504 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.504 MAPT Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.504 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.504 CPA6 Louise Daugherty Classified gene: CPA6 as Red List (low evidence)
Intellectual disability v2.504 CPA6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.504 CPA6 Louise Daugherty Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability v2.503 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.503 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.503 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.503 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.503 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.503 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.502 PET100 Louise Daugherty Classified gene: PET100 as Amber List (moderate evidence)
Intellectual disability v2.502 PET100 Louise Daugherty Gene: pet100 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.501 PET100 Louise Daugherty commented on gene: PET100: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 DRD2 Louise Daugherty Classified gene: DRD2 as Red List (low evidence)
Intellectual disability v2.501 DRD2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 DRD2 Louise Daugherty Gene: drd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.501 CP Louise Daugherty Classified gene: CP as Red List (low evidence)
Intellectual disability v2.501 CP Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 CP Louise Daugherty Gene: cp has been classified as Red List (Low Evidence).
Intellectual disability v2.500 CPA6 Louise Daugherty Classified gene: CPA6 as Red List (low evidence)
Intellectual disability v2.500 CPA6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 CPA6 Louise Daugherty Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability v2.500 DRD2 Louise Daugherty Classified gene: DRD2 as Red List (low evidence)
Intellectual disability v2.500 DRD2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 DRD2 Louise Daugherty Gene: drd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.500 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.500 MAPT Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.499 PYGL Louise Daugherty Classified gene: PYGL as Red List (low evidence)
Intellectual disability v2.499 PYGL Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.499 PYGL Louise Daugherty Gene: pygl has been classified as Red List (Low Evidence).
Intellectual disability v2.499 RHEB Louise Daugherty Classified gene: RHEB as Red List (low evidence)
Intellectual disability v2.499 RHEB Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.499 RHEB Louise Daugherty Gene: rheb has been classified as Red List (Low Evidence).
Intellectual disability v2.498 SPAST Louise Daugherty Classified gene: SPAST as Red List (low evidence)
Intellectual disability v2.498 SPAST Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.498 SPAST Louise Daugherty Gene: spast has been classified as Red List (Low Evidence).
Intellectual disability v2.497 TINF2 Louise Daugherty Classified gene: TINF2 as Red List (low evidence)
Intellectual disability v2.497 TINF2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.497 TINF2 Louise Daugherty Gene: tinf2 has been classified as Red List (Low Evidence).
Intellectual disability v2.496 ATP1A2 Louise Daugherty Classified gene: ATP1A2 as Amber List (moderate evidence)
Intellectual disability v2.496 ATP1A2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.496 ATP1A2 Louise Daugherty Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.495 ATP1A2 Louise Daugherty Classified gene: ATP1A2 as Amber List (moderate evidence)
Intellectual disability v2.495 ATP1A2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.495 ATP1A2 Louise Daugherty Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.494 D2HGDH Louise Daugherty Classified gene: D2HGDH as Green List (high evidence)
Intellectual disability v2.494 D2HGDH Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 D2HGDH Louise Daugherty Gene: d2hgdh has been classified as Green List (High Evidence).
Intellectual disability v2.494 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.494 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.494 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.494 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.493 TRIP12 Louise Daugherty Classified gene: TRIP12 as Green List (high evidence)
Intellectual disability v2.493 TRIP12 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.493 TRIP12 Louise Daugherty Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability v2.492 GABRG2 Louise Daugherty Classified gene: GABRG2 as Green List (high evidence)
Intellectual disability v2.492 GABRG2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.492 GABRG2 Louise Daugherty Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability v2.491 THRB Louise Daugherty Classified gene: THRB as Amber List (moderate evidence)
Intellectual disability v2.491 THRB Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.491 THRB Louise Daugherty Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.491 TBX1 Louise Daugherty Classified gene: TBX1 as Amber List (moderate evidence)
Intellectual disability v2.491 TBX1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.491 TBX1 Louise Daugherty Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 PET100 Louise Daugherty Classified gene: PET100 as Amber List (moderate evidence)
Intellectual disability v2.490 PET100 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 PET100 Louise Daugherty Gene: pet100 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 MED23 Louise Daugherty Classified gene: MED23 as Amber List (moderate evidence)
Intellectual disability v2.490 MED23 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 MED23 Louise Daugherty Gene: med23 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 KIRREL3 Louise Daugherty Classified gene: KIRREL3 as Amber List (moderate evidence)
Intellectual disability v2.490 KIRREL3 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 KIRREL3 Louise Daugherty Gene: kirrel3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.489 GSS Louise Daugherty Classified gene: GSS as Amber List (moderate evidence)
Intellectual disability v2.489 GSS Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been
Intellectual disability v2.489 GSS Louise Daugherty Gene: gss has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.488 FGFR2 Louise Daugherty Classified gene: FGFR2 as Amber List (moderate evidence)
Intellectual disability v2.488 FGFR2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.488 FGFR2 Louise Daugherty Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.487 FBN1 Louise Daugherty Classified gene: FBN1 as Amber List (moderate evidence)
Intellectual disability v2.487 FBN1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.487 FBN1 Louise Daugherty Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.486 C2CD3 Louise Daugherty Classified gene: C2CD3 as Amber List (moderate evidence)
Intellectual disability v2.486 C2CD3 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.486 C2CD3 Louise Daugherty Gene: c2cd3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.486 CRBN Louise Daugherty Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability v2.486 CRBN Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.486 CRBN Louise Daugherty Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.485 STAG1 Louise Daugherty Classified gene: STAG1 as Green List (high evidence)
Intellectual disability v2.485 STAG1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.485 STAG1 Louise Daugherty Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability v2.485 ZBTB18 Louise Daugherty Classified gene: ZBTB18 as Green List (high evidence)
Intellectual disability v2.485 ZBTB18 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.485 ZBTB18 Louise Daugherty Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability v2.484 ZBTB18 Louise Daugherty Classified gene: ZBTB18 as Green List (high evidence)
Intellectual disability v2.484 ZBTB18 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.484 ZBTB18 Louise Daugherty Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability v2.484 WDR81 Louise Daugherty Classified gene: WDR81 as Green List (high evidence)
Intellectual disability v2.484 WDR81 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.484 WDR81 Louise Daugherty Gene: wdr81 has been classified as Green List (High Evidence).
Intellectual disability v2.483 STAG1 Louise Daugherty Classified gene: STAG1 as Green List (high evidence)
Intellectual disability v2.483 STAG1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.483 STAG1 Louise Daugherty Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability v2.483 KCNJ6 Louise Daugherty Classified gene: KCNJ6 as Green List (high evidence)
Intellectual disability v2.483 KCNJ6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.483 KCNJ6 Louise Daugherty Gene: kcnj6 has been classified as Green List (High Evidence).
Intellectual disability v2.482 ITPR1 Louise Daugherty Classified gene: ITPR1 as Green List (high evidence)
Intellectual disability v2.482 ITPR1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.482 ITPR1 Louise Daugherty Gene: itpr1 has been classified as Green List (High Evidence).
Intellectual disability v2.482 DHX30 Louise Daugherty Classified gene: DHX30 as Green List (high evidence)
Intellectual disability v2.482 DHX30 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.482 DHX30 Louise Daugherty Gene: dhx30 has been classified as Green List (High Evidence).
Intellectual disability v2.481 DHX30 Louise Daugherty Classified gene: DHX30 as Green List (high evidence)
Intellectual disability v2.481 DHX30 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.481 DHX30 Louise Daugherty Gene: dhx30 has been classified as Green List (High Evidence).
Intellectual disability v2.481 D2HGDH Louise Daugherty Classified gene: D2HGDH as Green List (high evidence)
Intellectual disability v2.481 D2HGDH Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.481 D2HGDH Louise Daugherty Gene: d2hgdh has been classified as Green List (High Evidence).
Intellectual disability v2.480 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.480 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.480 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.480 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.480 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.480 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.479 BCS1L Louise Daugherty Classified gene: BCS1L as Green List (high evidence)
Intellectual disability v2.479 BCS1L Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.479 BCS1L Louise Daugherty Gene: bcs1l has been classified as Green List (High Evidence).
Intellectual disability v2.479 AHI1 Louise Daugherty Classified gene: AHI1 as Green List (high evidence)
Intellectual disability v2.479 AHI1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.479 AHI1 Louise Daugherty Gene: ahi1 has been classified as Green List (High Evidence).
Intellectual disability v2.478 ACTL6A Louise Daugherty Classified gene: ACTL6A as Green List (high evidence)
Intellectual disability v2.478 ACTL6A Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.478 ACTL6A Louise Daugherty Gene: actl6a has been classified as Green List (High Evidence).
Intellectual disability v2.477 TTC37 Louise Daugherty Classified gene: TTC37 as Green List (high evidence)
Intellectual disability v2.477 TTC37 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.477 TTC37 Louise Daugherty Gene: ttc37 has been classified as Green List (High Evidence).
Intellectual disability v2.476 TRIP12 Louise Daugherty Classified gene: TRIP12 as Green List (high evidence)
Intellectual disability v2.476 TRIP12 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.476 TRIP12 Louise Daugherty Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability v2.476 TBCK Louise Daugherty Classified gene: TBCK as Green List (high evidence)
Intellectual disability v2.476 TBCK Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.476 TBCK Louise Daugherty Gene: tbck has been classified as Green List (High Evidence).
Intellectual disability v2.475 SIN3A Louise Daugherty Classified gene: SIN3A as Green List (high evidence)
Intellectual disability v2.475 SIN3A Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.475 SIN3A Louise Daugherty Gene: sin3a has been classified as Green List (High Evidence).
Intellectual disability v2.474 RERE Louise Daugherty Classified gene: RERE as Green List (high evidence)
Intellectual disability v2.474 RERE Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.474 RERE Louise Daugherty Gene: rere has been classified as Green List (High Evidence).
Intellectual disability v2.474 PRMT7 Louise Daugherty Classified gene: PRMT7 as Green List (high evidence)
Intellectual disability v2.474 PRMT7 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.474 PRMT7 Louise Daugherty Gene: prmt7 has been classified as Green List (High Evidence).
Intellectual disability v2.473 PIK3CA Louise Daugherty Classified gene: PIK3CA as Green List (high evidence)
Intellectual disability v2.473 PIK3CA Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.473 PIK3CA Louise Daugherty Gene: pik3ca has been classified as Green List (High Evidence).
Intellectual disability v2.472 PDHX Louise Daugherty Classified gene: PDHX as Green List (high evidence)
Intellectual disability v2.472 PDHX Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.472 PDHX Louise Daugherty Gene: pdhx has been classified as Green List (High Evidence).
Intellectual disability v2.471 DIS3L2 Louise Daugherty Classified gene: DIS3L2 as Green List (high evidence)
Intellectual disability v2.471 DIS3L2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.471 DIS3L2 Louise Daugherty Gene: dis3l2 has been classified as Green List (High Evidence).
Intellectual disability v2.470 GABRG2 Louise Daugherty Classified gene: GABRG2 as Green List (high evidence)
Intellectual disability v2.470 GABRG2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.470 GABRG2 Louise Daugherty Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability v2.470 DIS3L2 Louise Daugherty Classified gene: DIS3L2 as Green List (high evidence)
Intellectual disability v2.470 DIS3L2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.470 DIS3L2 Louise Daugherty Gene: dis3l2 has been classified as Green List (High Evidence).
Intellectual disability v2.469 CCDC88C Louise Daugherty Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability v2.469 CCDC88C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.469 CCDC88C Louise Daugherty Gene: ccdc88c has been classified as Green List (High Evidence).
Intellectual disability v2.469 AMER1 Louise Daugherty Classified gene: AMER1 as Green List (high evidence)
Intellectual disability v2.469 AMER1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.469 AMER1 Louise Daugherty Gene: amer1 has been classified as Green List (High Evidence).
Intellectual disability v2.468 ZNF81 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF81.
Intellectual disability v2.468 ZNF711 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF711.
Intellectual disability v2.468 ZNF674 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF674.
Intellectual disability v2.468 ZNF41 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF41.
Intellectual disability v2.468 ZMYND11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZMYND11.
Intellectual disability v2.468 ZIC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZIC2.
Intellectual disability v2.468 ZFYVE26 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZFYVE26.
Intellectual disability v2.468 ZFP57 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZFP57.
Intellectual disability v2.468 ZEB2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZEB2.
Intellectual disability v2.468 ZDHHC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZDHHC9.
Intellectual disability v2.468 ZBTB24 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB24.
Intellectual disability v2.468 ZBTB20 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB20.
Intellectual disability v2.468 ZBTB18 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB18.
Intellectual disability v2.468 ZBTB16 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB16.
Intellectual disability v2.468 YY1 Louise Daugherty Source Victorian Clinical Genetics Services was added to YY1.
Intellectual disability v2.468 YAP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to YAP1.
Intellectual disability v2.468 XPNPEP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to XPNPEP3.
Intellectual disability v2.468 XIST Louise Daugherty gene: XIST was added
gene: XIST was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: XIST was set to
Intellectual disability v2.468 WWOX Louise Daugherty Source Victorian Clinical Genetics Services was added to WWOX.
Intellectual disability v2.468 WRN Louise Daugherty gene: WRN was added
gene: WRN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to
Intellectual disability v2.468 WFS1 Louise Daugherty gene: WFS1 was added
gene: WFS1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to
Intellectual disability v2.468 WDR81 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR81.
Intellectual disability v2.468 WDR73 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR73.
Intellectual disability v2.468 WDR62 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR62.
Intellectual disability v2.468 WDR45B Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR45B.
Intellectual disability v2.468 WDR26 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR26.
Intellectual disability v2.468 WDFY3 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDFY3.
Intellectual disability v2.468 WAC Louise Daugherty Source Victorian Clinical Genetics Services was added to WAC.
Intellectual disability v2.468 VPS53 Louise Daugherty Source Victorian Clinical Genetics Services was added to VPS53.
Intellectual disability v2.468 VPS13B Louise Daugherty Source Victorian Clinical Genetics Services was added to VPS13B.
Intellectual disability v2.468 VLDLR Louise Daugherty Source Victorian Clinical Genetics Services was added to VLDLR.
Intellectual disability v2.468 USP9X Louise Daugherty Source Victorian Clinical Genetics Services was added to USP9X.
Intellectual disability v2.468 USP7 Louise Daugherty gene: USP7 was added
gene: USP7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: USP7 was set to
Intellectual disability v2.468 USP18 Louise Daugherty gene: USP18 was added
gene: USP18 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: USP18 was set to
Intellectual disability v2.468 UROC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to UROC1.
Intellectual disability v2.468 UPF3B Louise Daugherty Source Victorian Clinical Genetics Services was added to UPF3B.
Intellectual disability v2.468 UPB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to UPB1.
Intellectual disability v2.468 UNC80 Louise Daugherty Source Victorian Clinical Genetics Services was added to UNC80.
Intellectual disability v2.468 UNC13A Louise Daugherty Source Victorian Clinical Genetics Services was added to UNC13A.
Intellectual disability v2.468 UBTF Louise Daugherty Source Victorian Clinical Genetics Services was added to UBTF.
Intellectual disability v2.468 UBR4 Louise Daugherty gene: UBR4 was added
gene: UBR4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: UBR4 was set to
Intellectual disability v2.468 UBE3A Louise Daugherty Source Victorian Clinical Genetics Services was added to UBE3A.
Intellectual disability v2.468 UBE2A Louise Daugherty Source Victorian Clinical Genetics Services was added to UBE2A.
Intellectual disability v2.468 UBA5 Louise Daugherty Source Victorian Clinical Genetics Services was added to UBA5.
Intellectual disability v2.468 TXNL4A Louise Daugherty Source Victorian Clinical Genetics Services was added to TXNL4A.
Intellectual disability v2.468 TWIST1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TWIST1.
Intellectual disability v2.468 TUSC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUSC3.
Intellectual disability v2.468 TUBB3 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB3.
Intellectual disability v2.468 TUBB2B Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB2B.
Intellectual disability v2.468 TUBB2A Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB2A.
Intellectual disability v2.468 TUBA8 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBA8.
Intellectual disability v2.468 TUBA1A Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBA1A.
Intellectual disability v2.468 TTR Louise Daugherty gene: TTR was added
gene: TTR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TTR was set to
Intellectual disability v2.468 TTC37 Louise Daugherty Source Victorian Clinical Genetics Services was added to TTC37.
Intellectual disability v2.468 TSPAN7 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSPAN7.
Intellectual disability v2.468 TSHR Louise Daugherty Source Victorian Clinical Genetics Services was added to TSHR.
Intellectual disability v2.468 TSC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSC2.
Intellectual disability v2.468 TSC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSC1.
Intellectual disability v2.468 TRMT10A Louise Daugherty Source Victorian Clinical Genetics Services was added to TRMT10A.
Intellectual disability v2.468 TRIT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIT1.
Intellectual disability v2.468 TRIP13 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIP13.
Intellectual disability v2.468 TRIP12 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIP12.
Intellectual disability v2.468 TRIO Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIO.
Intellectual disability v2.468 TRHR Louise Daugherty gene: TRHR was added
gene: TRHR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRHR was set to
Intellectual disability v2.468 TRAPPC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRAPPC9.
Intellectual disability v2.468 TRAPPC6B Louise Daugherty Source Victorian Clinical Genetics Services was added to TRAPPC6B.
Intellectual disability v2.468 TRAPPC12 Louise Daugherty gene: TRAPPC12 was added
gene: TRAPPC12 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC12 was set to
Intellectual disability v2.468 TRAK1 Louise Daugherty gene: TRAK1 was added
gene: TRAK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAK1 was set to
Intellectual disability v2.468 TPK1 Louise Daugherty gene: TPK1 was added
gene: TPK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TPK1 was set to
Intellectual disability v2.468 TPH2 Louise Daugherty gene: TPH2 was added
gene: TPH2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TPH2 was set to
Intellectual disability v2.468 TNRC6B Louise Daugherty gene: TNRC6B was added
gene: TNRC6B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to
Intellectual disability v2.468 TNIK Louise Daugherty Source Victorian Clinical Genetics Services was added to TNIK.
Intellectual disability v2.468 TMLHE Louise Daugherty Source Victorian Clinical Genetics Services was added to TMLHE.
Intellectual disability v2.468 TMEM70 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM70.
Intellectual disability v2.468 TMEM67 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM67.
Intellectual disability v2.468 TMEM260 Louise Daugherty gene: TMEM260 was added
gene: TMEM260 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM260 was set to
Intellectual disability v2.468 TMEM216 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM216.
Intellectual disability v2.468 TMEM165 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM165.
Intellectual disability v2.468 TMCO1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMCO1.
Intellectual disability v2.468 TLK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TLK2.
Intellectual disability v2.468 TINF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TINF2.
Intellectual disability v2.468 THRB Louise Daugherty Source Victorian Clinical Genetics Services was added to THRB.
Intellectual disability v2.468 THOC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to THOC6.
Intellectual disability v2.468 TH Louise Daugherty Source Victorian Clinical Genetics Services was added to TH.
Intellectual disability v2.468 TGIF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TGIF1.
Intellectual disability v2.468 TGDS Louise Daugherty Source Victorian Clinical Genetics Services was added to TGDS.
Intellectual disability v2.468 TFE3 Louise Daugherty gene: TFE3 was added
gene: TFE3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TFE3 was set to
Intellectual disability v2.468 TECR Louise Daugherty Source Victorian Clinical Genetics Services was added to TECR.
Intellectual disability v2.468 TCF4 Louise Daugherty Source Victorian Clinical Genetics Services was added to TCF4.
Intellectual disability v2.468 TCF20 Louise Daugherty Source Victorian Clinical Genetics Services was added to TCF20.
Intellectual disability v2.468 TBX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBX1.
Intellectual disability v2.468 TBR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBR1.
Intellectual disability v2.468 TBL1XR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBL1XR1.
Intellectual disability v2.468 TBCK Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCK.
Intellectual disability v2.468 TBCE Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCE.
Intellectual disability v2.468 TBCD Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCD.
Intellectual disability v2.468 TBC1D24 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBC1D24.
Intellectual disability v2.468 TBC1D23 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBC1D23.
Intellectual disability v2.468 TAOK1 Louise Daugherty gene: TAOK1 was added
gene: TAOK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TAOK1 was set to
Intellectual disability v2.468 TAF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF6.
Intellectual disability v2.468 TAF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF2.
Intellectual disability v2.468 TAF13 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF13.
Intellectual disability v2.468 TAF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF1.
Intellectual disability v2.468 SYT14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYT14.
Intellectual disability v2.468 SYP Louise Daugherty Source Victorian Clinical Genetics Services was added to SYP.
Intellectual disability v2.468 SYNGAP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYNGAP1.
Intellectual disability v2.468 SYNE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYNE1.
Intellectual disability v2.468 SYN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYN1.
Intellectual disability v2.468 SUCLG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SUCLG1.
Intellectual disability v2.468 STXBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to STXBP1.
Intellectual disability v2.468 STX1B Louise Daugherty Source Victorian Clinical Genetics Services was added to STX1B.
Intellectual disability v2.468 STX11 Louise Daugherty gene: STX11 was added
gene: STX11 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: STX11 was set to
Intellectual disability v2.468 STRA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to STRA6.
Intellectual disability v2.468 STIL Louise Daugherty Source Victorian Clinical Genetics Services was added to STIL.
Intellectual disability v2.468 STAT5B Louise Daugherty gene: STAT5B was added
gene: STAT5B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT5B was set to
Intellectual disability v2.468 STAG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to STAG1.
Intellectual disability v2.468 ST3GAL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ST3GAL3.
Intellectual disability v2.468 SSR4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SSR4.
Intellectual disability v2.468 SRPX2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SRPX2.
Intellectual disability v2.468 SRD5A3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SRD5A3.
Intellectual disability v2.468 SRCAP Louise Daugherty Source Victorian Clinical Genetics Services was added to SRCAP.
Intellectual disability v2.468 SPTLC1 Louise Daugherty gene: SPTLC1 was added
gene: SPTLC1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTLC1 was set to
Intellectual disability v2.468 SPTAN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SPTAN1.
Intellectual disability v2.468 SPRTN Louise Daugherty gene: SPRTN was added
gene: SPRTN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SPRTN was set to
Intellectual disability v2.468 SPR Louise Daugherty Source Victorian Clinical Genetics Services was added to SPR.
Intellectual disability v2.468 SPECC1L Louise Daugherty Source Victorian Clinical Genetics Services was added to SPECC1L.
Intellectual disability v2.468 SPAST Louise Daugherty Source Victorian Clinical Genetics Services was added to SPAST.
Intellectual disability v2.468 SOX5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX5.
Intellectual disability v2.468 SOX3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX3.
Intellectual disability v2.468 SOX2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX2.
Intellectual disability v2.468 SOX10 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX10.
Intellectual disability v2.468 SON Louise Daugherty Source Victorian Clinical Genetics Services was added to SON.
Intellectual disability v2.468 SOBP Louise Daugherty Source Victorian Clinical Genetics Services was added to SOBP.
Intellectual disability v2.468 SNX14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNX14.
Intellectual disability v2.468 SNORD118 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNORD118.
Intellectual disability v2.468 SNIP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNIP1.
Intellectual disability v2.468 SMS Louise Daugherty Source Victorian Clinical Genetics Services was added to SMS.
Intellectual disability v2.468 SMC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMC3.
Intellectual disability v2.468 SMC1A Louise Daugherty Source Victorian Clinical Genetics Services was added to SMC1A.
Intellectual disability v2.468 SMARCE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCE1.
Intellectual disability v2.468 SMARCB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCB1.
Intellectual disability v2.468 SMARCA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCA4.
Intellectual disability v2.468 SMARCA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCA2.
Intellectual disability v2.468 SLX4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLX4.
Intellectual disability v2.468 SLC9A9 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC9A9.
Intellectual disability v2.468 SLC9A6 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC9A6.
Intellectual disability v2.468 SLC7A7 Louise Daugherty gene: SLC7A7 was added
gene: SLC7A7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC7A7 was set to
Intellectual disability v2.468 SLC6A8 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A8.
Intellectual disability v2.468 SLC6A4 Louise Daugherty gene: SLC6A4 was added
gene: SLC6A4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A4 was set to
Intellectual disability v2.468 SLC6A17 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A17.
Intellectual disability v2.468 SLC6A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A1.
Intellectual disability v2.468 SLC5A5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC5A5.
Intellectual disability v2.468 SLC5A2 Louise Daugherty gene: SLC5A2 was added
gene: SLC5A2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC5A2 was set to
Intellectual disability v2.468 SLC4A4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC4A4.
Intellectual disability v2.468 SLC46A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC46A1.
Intellectual disability v2.468 SLC45A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC45A1.
Intellectual disability v2.468 SLC39A14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC39A14.
Intellectual disability v2.468 SLC35C1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC35C1.
Intellectual disability v2.468 SLC35A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC35A1.
Intellectual disability v2.468 SLC2A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC2A2.
Intellectual disability v2.468 SLC2A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC2A1.
Intellectual disability v2.468 SLC25A24 Louise Daugherty gene: SLC25A24 was added
gene: SLC25A24 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A24 was set to
Intellectual disability v2.468 SLC25A15 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC25A15.
Intellectual disability v2.468 SLC25A13 Louise Daugherty gene: SLC25A13 was added
gene: SLC25A13 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A13 was set to
Intellectual disability v2.468 SLC25A12 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC25A12.
Intellectual disability v2.468 SLC20A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC20A2.
Intellectual disability v2.468 SLC16A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC16A2.
Intellectual disability v2.468 SLC13A5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC13A5.
Intellectual disability v2.468 SLC12A6 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC12A6.
Intellectual disability v2.468 SIN3A Louise Daugherty Source Victorian Clinical Genetics Services was added to SIN3A.
Intellectual disability v2.468 SIL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SIL1.
Intellectual disability v2.468 SHROOM4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHROOM4.
Intellectual disability v2.468 SHANK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHANK3.
Intellectual disability v2.468 SHANK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHANK2.
Intellectual disability v2.468 SGSH Louise Daugherty Source Victorian Clinical Genetics Services was added to SGSH.
Intellectual disability v2.468 SGCA Louise Daugherty gene: SGCA was added
gene: SGCA was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SGCA was set to
Intellectual disability v2.468 SETD5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD5.
Intellectual disability v2.468 SETD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD2.
Intellectual disability v2.468 SETD1B Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD1B.
Intellectual disability v2.468 SETBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETBP1.
Intellectual disability v2.468 SET Louise Daugherty Source Victorian Clinical Genetics Services was added to SET.
Intellectual disability v2.468 SELENOI Louise Daugherty gene: SELENOI was added
gene: SELENOI was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENOI was set to
Intellectual disability v2.468 SDCCAG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to SDCCAG8.
Intellectual disability v2.468 SCN9A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN9A.
Intellectual disability v2.468 SCN8A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN8A.
Intellectual disability v2.468 SCN3A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN3A.
Intellectual disability v2.468 SCN2A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN2A.
Intellectual disability v2.468 SCN1A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN1A.
Intellectual disability v2.468 SATB2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SATB2.
Intellectual disability v2.468 SAMHD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SAMHD1.
Intellectual disability v2.468 SACS Louise Daugherty Source Victorian Clinical Genetics Services was added to SACS.
Intellectual disability v2.468 RTTN Louise Daugherty Source Victorian Clinical Genetics Services was added to RTTN.
Intellectual disability v2.468 RPS6KA3 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPS6KA3.
Intellectual disability v2.468 RPS23 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPS23.
Intellectual disability v2.468 RPL10 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPL10.
Intellectual disability v2.468 RPGRIP1L Louise Daugherty Source Victorian Clinical Genetics Services was added to RPGRIP1L.
Intellectual disability v2.468 RNF135 Louise Daugherty Source Victorian Clinical Genetics Services was added to RNF135.
Intellectual disability v2.468 RNF125 Louise Daugherty Source Victorian Clinical Genetics Services was added to RNF125.
Intellectual disability v2.468 RIMS1 Louise Daugherty gene: RIMS1 was added
gene: RIMS1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RIMS1 was set to
Intellectual disability v2.468 RHEB Louise Daugherty Source Victorian Clinical Genetics Services was added to RHEB.
Intellectual disability v2.468 RFX6 Louise Daugherty Source Victorian Clinical Genetics Services was added to RFX6.
Intellectual disability v2.468 RFT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RFT1.
Intellectual disability v2.468 RERE Louise Daugherty Source Victorian Clinical Genetics Services was added to RERE.
Intellectual disability v2.468 RELN Louise Daugherty Source Victorian Clinical Genetics Services was added to RELN.
Intellectual disability v2.468 RBM10 Louise Daugherty Source Victorian Clinical Genetics Services was added to RBM10.
Intellectual disability v2.468 RBFOX1 Louise Daugherty gene: RBFOX1 was added
gene: RBFOX1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RBFOX1 was set to
Intellectual disability v2.468 RBBP8 Louise Daugherty Source Victorian Clinical Genetics Services was added to RBBP8.
Intellectual disability v2.468 RARB Louise Daugherty Source Victorian Clinical Genetics Services was added to RARB.
Intellectual disability v2.468 RAPSN Louise Daugherty Source Victorian Clinical Genetics Services was added to RAPSN.
Intellectual disability v2.468 RANBP17 Louise Daugherty gene: RANBP17 was added
gene: RANBP17 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RANBP17 was set to
Intellectual disability v2.468 RAI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAI1.
Intellectual disability v2.468 RAD21 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAD21.
Intellectual disability v2.468 RAC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAC1.
Intellectual disability v2.468 RAB40AL Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB40AL.
Intellectual disability v2.468 RAB39B Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB39B.
Intellectual disability v2.468 RAB11B Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB11B.
Intellectual disability v2.468 QRICH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to QRICH1.
Intellectual disability v2.468 QARS Louise Daugherty Source Victorian Clinical Genetics Services was added to QARS.
Intellectual disability v2.468 PYGL Louise Daugherty Source Victorian Clinical Genetics Services was added to PYGL.
Intellectual disability v2.468 PYCR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PYCR1.
Intellectual disability v2.468 PURA Louise Daugherty Source Victorian Clinical Genetics Services was added to PURA.
Intellectual disability v2.468 PUF60 Louise Daugherty Source Victorian Clinical Genetics Services was added to PUF60.
Intellectual disability v2.468 PTPN23 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTPN23.
Intellectual disability v2.468 PTPN11 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTPN11.
Intellectual disability v2.468 PTEN Louise Daugherty Source Victorian Clinical Genetics Services was added to PTEN.
Intellectual disability v2.468 PTDSS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTDSS1.
Intellectual disability v2.468 PTCHD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTCHD1.
Intellectual disability v2.468 PTCH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTCH1.
Intellectual disability v2.468 PSPH Louise Daugherty Source Victorian Clinical Genetics Services was added to PSPH.
Intellectual disability v2.468 PSMD12 Louise Daugherty Source Victorian Clinical Genetics Services was added to PSMD12.
Intellectual disability v2.468 PSAT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PSAT1.
Intellectual disability v2.468 PRSS12 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRSS12.
Intellectual disability v2.468 PRPS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRPS1.
Intellectual disability v2.468 PRODH Louise Daugherty Source Victorian Clinical Genetics Services was added to PRODH.
Intellectual disability v2.468 PRMT7 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRMT7.
Intellectual disability v2.468 PRKD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRKD1.
Intellectual disability v2.468 PRKAR1A Louise Daugherty Source Victorian Clinical Genetics Services was added to PRKAR1A.
Intellectual disability v2.468 PRICKLE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRICKLE1.
Intellectual disability v2.468 PREPL Louise Daugherty Source Victorian Clinical Genetics Services was added to PREPL.
Intellectual disability v2.468 PQBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PQBP1.
Intellectual disability v2.468 PPP3CA Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP3CA.
Intellectual disability v2.468 PPP2R5D Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP2R5D.
Intellectual disability v2.468 PPP1R1B Louise Daugherty gene: PPP1R1B was added
gene: PPP1R1B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R1B was set to
Intellectual disability v2.468 PPP1R15B Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP1R15B.
Intellectual disability v2.468 PPOX Louise Daugherty Source Victorian Clinical Genetics Services was added to PPOX.
Intellectual disability v2.468 PPM1D Louise Daugherty Source Victorian Clinical Genetics Services was added to PPM1D.
Intellectual disability v2.468 POU1F1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POU1F1.
Intellectual disability v2.468 PORCN Louise Daugherty Source Victorian Clinical Genetics Services was added to PORCN.
Intellectual disability v2.468 POMT2 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMT2.
Intellectual disability v2.468 POMT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMT1.
Intellectual disability v2.468 POMGNT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMGNT1.
Intellectual disability v2.468 POGZ Louise Daugherty Source Victorian Clinical Genetics Services was added to POGZ.
Intellectual disability v2.468 POGLUT1 Louise Daugherty gene: POGLUT1 was added
gene: POGLUT1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: POGLUT1 was set to
Intellectual disability v2.468 PNPLA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PNPLA6.
Intellectual disability v2.468 PNKP Louise Daugherty Source Victorian Clinical Genetics Services was added to PNKP.
Intellectual disability v2.468 PMM2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PMM2.
Intellectual disability v2.468 PLP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLP1.
Intellectual disability v2.468 PLK4 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLK4.
Intellectual disability v2.468 PLAA Louise Daugherty Source Victorian Clinical Genetics Services was added to PLAA.
Intellectual disability v2.468 PLA2G6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLA2G6.
Intellectual disability v2.468 PIK3R2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PIK3R2.
Intellectual disability v2.468 PIK3CA Louise Daugherty Source Victorian Clinical Genetics Services was added to PIK3CA.
Intellectual disability v2.468 PIGY Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGY.
Intellectual disability v2.468 PIGW Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGW.
Intellectual disability v2.468 PIGV Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGV.
Intellectual disability v2.468 PIGO Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGO.
Intellectual disability v2.468 PIGN Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGN.
Intellectual disability v2.468 PIGL Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGL.
Intellectual disability v2.468 PIGC Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGC.
Intellectual disability v2.468 PIEZO2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PIEZO2.
Intellectual disability v2.468 PHKG2 Louise Daugherty gene: PHKG2 was added
gene: PHKG2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKG2 was set to
Intellectual disability v2.468 PHKA2 Louise Daugherty gene: PHKA2 was added
gene: PHKA2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKA2 was set to
Intellectual disability v2.468 PHF8 Louise Daugherty Source Victorian Clinical Genetics Services was added to PHF8.
Intellectual disability v2.468 PHF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PHF6.
Intellectual disability v2.468 PGM3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGM3.
Intellectual disability v2.468 PGM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGM1.
Intellectual disability v2.468 PGK1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGK1.
Intellectual disability v2.468 PGAP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGAP3.
Intellectual disability v2.468 PEX7 Louise Daugherty Source Victorian Clinical Genetics Services was added to PEX7.
Intellectual disability v2.468 PET100 Louise Daugherty Source Victorian Clinical Genetics Services was added to PET100.
Intellectual disability v2.468 PDSS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PDSS1.
Intellectual disability v2.468 PDHX Louise Daugherty Source Victorian Clinical Genetics Services was added to PDHX.
Intellectual disability v2.468 PDGFRB Louise Daugherty Source Victorian Clinical Genetics Services was added to PDGFRB.
Intellectual disability v2.468 PDE4D Louise Daugherty Source Victorian Clinical Genetics Services was added to PDE4D.
Intellectual disability v2.468 PCNT Louise Daugherty Source Victorian Clinical Genetics Services was added to PCNT.
Intellectual disability v2.468 PCLO Louise Daugherty Source Victorian Clinical Genetics Services was added to PCLO.
Intellectual disability v2.468 PCDH19 Louise Daugherty Source Victorian Clinical Genetics Services was added to PCDH19.
Intellectual disability v2.468 PCDH10 Louise Daugherty Source Victorian Clinical Genetics Services was added to PCDH10.
Intellectual disability v2.468 PCCB Louise Daugherty Source Victorian Clinical Genetics Services was added to PCCB.
Intellectual disability v2.468 PCCA Louise Daugherty Source Victorian Clinical Genetics Services was added to PCCA.
Intellectual disability v2.468 PBX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PBX1.
Intellectual disability v2.468 PAX7 Louise Daugherty gene: PAX7 was added
gene: PAX7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX7 was set to
Intellectual disability v2.468 PAX6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAX6.
Intellectual disability v2.468 PAK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAK3.
Intellectual disability v2.468 PAH Louise Daugherty Source Victorian Clinical Genetics Services was added to PAH.
Intellectual disability v2.468 PAFAH1B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAFAH1B1.
Intellectual disability v2.468 PACS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PACS1.
Intellectual disability v2.468 P4HB Louise Daugherty Source Victorian Clinical Genetics Services was added to P4HB.
Intellectual disability v2.468 OTUD6B Louise Daugherty Source Victorian Clinical Genetics Services was added to OTUD6B.
Intellectual disability v2.468 ORC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ORC1.
Intellectual disability v2.468 OPHN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to OPHN1.
Intellectual disability v2.468 OFD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to OFD1.
Intellectual disability v2.468 OCRL Louise Daugherty Source Victorian Clinical Genetics Services was added to OCRL.
Intellectual disability v2.468 NUP188 Louise Daugherty gene: NUP188 was added
gene: NUP188 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NUP188 was set to
Intellectual disability v2.468 NTNG1 Louise Daugherty gene: NTNG1 was added
gene: NTNG1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NTNG1 was set to
Intellectual disability v2.468 NSUN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NSUN2.
Intellectual disability v2.468 NSDHL Louise Daugherty Source Victorian Clinical Genetics Services was added to NSDHL.
Intellectual disability v2.468 NSD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NSD1.
Intellectual disability v2.468 NRXN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NRXN1.
Intellectual disability v2.468 NR2F1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NR2F1.
Intellectual disability v2.468 NPR3 Louise Daugherty gene: NPR3 was added
gene: NPR3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NPR3 was set to
Intellectual disability v2.468 NPHP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPHP3.
Intellectual disability v2.468 NPC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPC2.
Intellectual disability v2.468 NPC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPC1.
Intellectual disability v2.468 NONO Louise Daugherty Source Victorian Clinical Genetics Services was added to NONO.
Intellectual disability v2.468 NLGN4X Louise Daugherty Source Victorian Clinical Genetics Services was added to NLGN4X.
Intellectual disability v2.468 NLGN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to NLGN3.
Intellectual disability v2.468 NIPBL Louise Daugherty Source Victorian Clinical Genetics Services was added to NIPBL.
Intellectual disability v2.468 NHS Louise Daugherty Source Victorian Clinical Genetics Services was added to NHS.
Intellectual disability v2.468 NHP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHP2.
Intellectual disability v2.468 NHEJ1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHEJ1.
Intellectual disability v2.468 NGF Louise Daugherty gene: NGF was added
gene: NGF was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NGF was set to
Intellectual disability v2.468 NFIX Louise Daugherty Source Victorian Clinical Genetics Services was added to NFIX.
Intellectual disability v2.468 NF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NF1.
Intellectual disability v2.468 NEXMIF Louise Daugherty Source Victorian Clinical Genetics Services was added to NEXMIF.
Intellectual disability v2.468 NDUFS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFS1.
Intellectual disability v2.468 NDUFAF5 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFAF5.
Intellectual disability v2.468 NDUFA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFA1.
Intellectual disability v2.468 NDP Louise Daugherty Source Victorian Clinical Genetics Services was added to NDP.
Intellectual disability v2.468 NCKAP1 Louise Daugherty gene: NCKAP1 was added
gene: NCKAP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NCKAP1 was set to
Intellectual disability v2.468 NBN Louise Daugherty Source Victorian Clinical Genetics Services was added to NBN.
Intellectual disability v2.468 NALCN Louise Daugherty Source Victorian Clinical Genetics Services was added to NALCN.
Intellectual disability v2.468 NAGA Louise Daugherty Source Victorian Clinical Genetics Services was added to NAGA.
Intellectual disability v2.468 NACC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NACC1.
Intellectual disability v2.468 NAA15 Louise Daugherty Source Victorian Clinical Genetics Services was added to NAA15.
Intellectual disability v2.468 NAA10 Louise Daugherty Source Victorian Clinical Genetics Services was added to NAA10.
Intellectual disability v2.468 MYT1L Louise Daugherty Source Victorian Clinical Genetics Services was added to MYT1L.
Intellectual disability v2.468 MYO5A Louise Daugherty Source Victorian Clinical Genetics Services was added to MYO5A.
Intellectual disability v2.468 MYCN Louise Daugherty Source Victorian Clinical Genetics Services was added to MYCN.
Intellectual disability v2.468 MTR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTR.
Intellectual disability v2.468 MTOR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTOR.
Intellectual disability v2.468 MTHFR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTHFR.
Intellectual disability v2.468 MTFMT Louise Daugherty Source Victorian Clinical Genetics Services was added to MTFMT.
Intellectual disability v2.468 MSL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to MSL3.
Intellectual disability v2.468 MRAP Louise Daugherty gene: MRAP was added
gene: MRAP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MRAP was set to
Intellectual disability v2.468 MPZ Louise Daugherty Source Victorian Clinical Genetics Services was added to MPZ.
Intellectual disability v2.468 MPI Louise Daugherty Source Victorian Clinical Genetics Services was added to MPI.
Intellectual disability v2.468 MOGS Louise Daugherty Source Victorian Clinical Genetics Services was added to MOGS.
Intellectual disability v2.468 MOCS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MOCS2.
Intellectual disability v2.468 MMADHC Louise Daugherty Source Victorian Clinical Genetics Services was added to MMADHC.
Intellectual disability v2.468 MLYCD Louise Daugherty Source Victorian Clinical Genetics Services was added to MLYCD.
Intellectual disability v2.468 MKKS Louise Daugherty Source Victorian Clinical Genetics Services was added to MKKS.
Intellectual disability v2.468 MID1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MID1.
Intellectual disability v2.468 MICU1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MICU1.
Intellectual disability v2.468 MGAT2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MGAT2.
Intellectual disability v2.468 MFSD8 Louise Daugherty Source Victorian Clinical Genetics Services was added to MFSD8.
Intellectual disability v2.468 MET Louise Daugherty gene: MET was added
gene: MET was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MET was set to
Intellectual disability v2.468 MEIS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MEIS2.
Intellectual disability v2.468 MEF2C Louise Daugherty Source Victorian Clinical Genetics Services was added to MEF2C.
Intellectual disability v2.468 MED25 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED25.
Intellectual disability v2.468 MED23 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED23.
Intellectual disability v2.468 MED17 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED17.
Intellectual disability v2.468 MED13L Louise Daugherty Source Victorian Clinical Genetics Services was added to MED13L.
Intellectual disability v2.468 MED12 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED12.
Intellectual disability v2.468 MECP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MECP2.
Intellectual disability v2.468 MCPH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCPH1.
Intellectual disability v2.468 MCOLN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCOLN1.
Intellectual disability v2.468 MCM9 Louise Daugherty gene: MCM9 was added
gene: MCM9 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MCM9 was set to
Intellectual disability v2.468 MCCC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCCC2.
Intellectual disability v2.468 MCCC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCCC1.
Intellectual disability v2.468 MBTPS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBTPS2.
Intellectual disability v2.468 MBOAT7 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBOAT7.
Intellectual disability v2.468 MBD5 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBD5.
Intellectual disability v2.468 MAT1A Louise Daugherty Source Victorian Clinical Genetics Services was added to MAT1A.
Intellectual disability v2.468 MAPT Louise Daugherty Source Victorian Clinical Genetics Services was added to MAPT.
Intellectual disability v2.468 MAP2K2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAP2K2.
Intellectual disability v2.468 MAOA Louise Daugherty Source Victorian Clinical Genetics Services was added to MAOA.
Intellectual disability v2.468 MANBA Louise Daugherty Source Victorian Clinical Genetics Services was added to MANBA.
Intellectual disability v2.468 MAN2B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAN2B1.
Intellectual disability v2.468 MAN1B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAN1B1.
Intellectual disability v2.468 MAGT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAGT1.
Intellectual disability v2.468 MAGEL2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAGEL2.
Intellectual disability v2.468 MADD Louise Daugherty gene: MADD was added
gene: MADD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MADD was set to
Intellectual disability v2.468 LYST Louise Daugherty Source Victorian Clinical Genetics Services was added to LYST.
Intellectual disability v2.468 LRP5 Louise Daugherty Source Victorian Clinical Genetics Services was added to LRP5.
Intellectual disability v2.468 LRP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LRP2.
Intellectual disability v2.468 LMBRD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LMBRD1.
Intellectual disability v2.468 LINS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LINS1.
Intellectual disability v2.468 LIG4 Louise Daugherty Source Victorian Clinical Genetics Services was added to LIG4.
Intellectual disability v2.468 LHX3 Louise Daugherty Source Victorian Clinical Genetics Services was added to LHX3.
Intellectual disability v2.468 LBR Louise Daugherty Source Victorian Clinical Genetics Services was added to LBR.
Intellectual disability v2.468 LAS1L Louise Daugherty Source Victorian Clinical Genetics Services was added to LAS1L.
Intellectual disability v2.468 LARS2 Louise Daugherty gene: LARS2 was added
gene: LARS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: LARS2 was set to
Intellectual disability v2.468 LARGE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LARGE1.
Intellectual disability v2.468 LAMP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMP2.
Intellectual disability v2.468 LAMC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMC3.
Intellectual disability v2.468 LAMA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMA2.
Intellectual disability v2.468 LAMA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMA1.
Intellectual disability v2.468 L1CAM Louise Daugherty Source Victorian Clinical Genetics Services was added to L1CAM.
Intellectual disability v2.468 KRAS Louise Daugherty Source Victorian Clinical Genetics Services was added to KRAS.
Intellectual disability v2.468 KPTN Louise Daugherty Source Victorian Clinical Genetics Services was added to KPTN.
Intellectual disability v2.468 KMT5B Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT5B.
Intellectual disability v2.468 KMT2E Louise Daugherty gene: KMT2E was added
gene: KMT2E was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2E was set to
Intellectual disability v2.468 KMT2D Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2D.
Intellectual disability v2.468 KMT2C Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2C.
Intellectual disability v2.468 KMT2A Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2A.
Intellectual disability v2.468 KLHL7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KLHL7.
Intellectual disability v2.468 KIRREL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIRREL3.
Intellectual disability v2.468 KIF7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF7.
Intellectual disability v2.468 KIF5C Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF5C.
Intellectual disability v2.468 KIF5A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF5A.
Intellectual disability v2.468 KIF4A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF4A.
Intellectual disability v2.468 KIF21A Louise Daugherty gene: KIF21A was added
gene: KIF21A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF21A was set to
Intellectual disability v2.468 KIF1A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF1A.
Intellectual disability v2.468 KIF14 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF14.
Intellectual disability v2.468 KIF11 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF11.
Intellectual disability v2.468 KIDINS220 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIDINS220.
Intellectual disability v2.468 KIAA1109 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIAA1109.
Intellectual disability v2.468 KDM6A Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM6A.
Intellectual disability v2.468 KDM5C Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM5C.
Intellectual disability v2.468 KDM5B Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM5B.
Intellectual disability v2.468 KDM3B Louise Daugherty gene: KDM3B was added
gene: KDM3B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM3B was set to
Intellectual disability v2.468 KDM1A Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM1A.
Intellectual disability v2.468 KCTD7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCTD7.
Intellectual disability v2.468 KCTD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCTD3.
Intellectual disability v2.468 KCNQ5 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ5.
Intellectual disability v2.468 KCNQ3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ3.
Intellectual disability v2.468 KCNQ2 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ2.
Intellectual disability v2.468 KCNK9 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNK9.
Intellectual disability v2.468 KCNJ6 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ6.
Intellectual disability v2.468 KCNJ11 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ11.
Intellectual disability v2.468 KCNJ10 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ10.
Intellectual disability v2.468 KCNH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNH1.
Intellectual disability v2.468 KCNC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNC1.
Intellectual disability v2.468 KATNAL2 Louise Daugherty gene: KATNAL2 was added
gene: KATNAL2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KATNAL2 was set to
Intellectual disability v2.468 KAT6A Louise Daugherty Source Victorian Clinical Genetics Services was added to KAT6A.
Intellectual disability v2.468 KAT5 Louise Daugherty gene: KAT5 was added
gene: KAT5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT5 was set to
Intellectual disability v2.468 KANSL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KANSL1.
Intellectual disability v2.468 ITPR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ITPR1.
Intellectual disability v2.468 ITPA Louise Daugherty Source Victorian Clinical Genetics Services was added to ITPA.
Intellectual disability v2.468 ITGA7 Louise Daugherty Source Victorian Clinical Genetics Services was added to ITGA7.
Intellectual disability v2.468 ISCA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ISCA2.
Intellectual disability v2.468 IRX5 Louise Daugherty Source Victorian Clinical Genetics Services was added to IRX5.
Intellectual disability v2.468 IQSEC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to IQSEC2.
Intellectual disability v2.468 INTS8 Louise Daugherty Source Victorian Clinical Genetics Services was added to INTS8.
Intellectual disability v2.468 INTS6 Louise Daugherty gene: INTS6 was added
gene: INTS6 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: INTS6 was set to
Intellectual disability v2.468 INTS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to INTS1.
Intellectual disability v2.468 INSR Louise Daugherty gene: INSR was added
gene: INSR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: INSR was set to
Intellectual disability v2.468 INPP5K Louise Daugherty Source Victorian Clinical Genetics Services was added to INPP5K.
Intellectual disability v2.468 ILF2 Louise Daugherty gene: ILF2 was added
gene: ILF2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ILF2 was set to
Intellectual disability v2.468 IL1RAPL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IL1RAPL1.
Intellectual disability v2.468 IGF1R Louise Daugherty Source Victorian Clinical Genetics Services was added to IGF1R.
Intellectual disability v2.468 IGF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IGF1.
Intellectual disability v2.468 IGBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IGBP1.
Intellectual disability v2.468 IFIH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IFIH1.
Intellectual disability v2.468 IER3IP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IER3IP1.
Intellectual disability v2.468 IDS Louise Daugherty Source Victorian Clinical Genetics Services was added to IDS.
Intellectual disability v2.468 IARS Louise Daugherty Source Victorian Clinical Genetics Services was added to IARS.
Intellectual disability v2.468 HUWE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HUWE1.
Intellectual disability v2.468 HSPD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSPD1.
Intellectual disability v2.468 HSD17B10 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSD17B10.
Intellectual disability v2.468 HRAS Louise Daugherty Source Victorian Clinical Genetics Services was added to HRAS.
Intellectual disability v2.468 HPRT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HPRT1.
Intellectual disability v2.468 HPD Louise Daugherty Source Victorian Clinical Genetics Services was added to HPD.
Intellectual disability v2.468 HOXD10 Louise Daugherty gene: HOXD10 was added
gene: HOXD10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXD10 was set to
Intellectual disability v2.468 HOXA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HOXA1.
Intellectual disability v2.468 HNRNPU Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPU.
Intellectual disability v2.468 HNRNPK Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPK.
Intellectual disability v2.468 HNRNPH2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPH2.
Intellectual disability v2.468 HIST1H4C Louise Daugherty Source Victorian Clinical Genetics Services was added to HIST1H4C.
Intellectual disability v2.468 HIST1H1E Louise Daugherty Source Victorian Clinical Genetics Services was added to HIST1H1E.
Intellectual disability v2.468 HEXB Louise Daugherty Source Victorian Clinical Genetics Services was added to HEXB.
Intellectual disability v2.468 HERC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HERC2.
Intellectual disability v2.468 HEPACAM Louise Daugherty Source Victorian Clinical Genetics Services was added to HEPACAM.
Intellectual disability v2.468 HECW2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HECW2.
Intellectual disability v2.468 HDAC8 Louise Daugherty Source Victorian Clinical Genetics Services was added to HDAC8.
Intellectual disability v2.468 HDAC4 Louise Daugherty Source Victorian Clinical Genetics Services was added to HDAC4.
Intellectual disability v2.468 HCN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HCN1.
Intellectual disability v2.468 HAX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HAX1.
Intellectual disability v2.468 HARS2 Louise Daugherty gene: HARS2 was added
gene: HARS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS2 was set to
Intellectual disability v2.468 HACE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HACE1.
Intellectual disability v2.468 H3F3B Louise Daugherty gene: H3F3B was added
gene: H3F3B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3B was set to
Intellectual disability v2.468 H3F3A Louise Daugherty gene: H3F3A was added
gene: H3F3A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3A was set to
Intellectual disability v2.468 GYS2 Louise Daugherty gene: GYS2 was added
gene: GYS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GYS2 was set to
Intellectual disability v2.468 GUSB Louise Daugherty Source Victorian Clinical Genetics Services was added to GUSB.
Intellectual disability v2.468 GTPBP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GTPBP3.
Intellectual disability v2.468 GTF3C3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GTF3C3.
Intellectual disability v2.468 GSS Louise Daugherty Source Victorian Clinical Genetics Services was added to GSS.
Intellectual disability v2.468 GRM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRM1.
Intellectual disability v2.468 GRIP1 Louise Daugherty gene: GRIP1 was added
gene: GRIP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIP1 was set to
Intellectual disability v2.468 GRIN2B Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN2B.
Intellectual disability v2.468 GRIN2A Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN2A.
Intellectual disability v2.468 GRIN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN1.
Intellectual disability v2.468 GRIK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIK2.
Intellectual disability v2.468 GRIA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIA4.
Intellectual disability v2.468 GRIA3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIA3.
Intellectual disability v2.468 GPC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GPC3.
Intellectual disability v2.468 GPAA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GPAA1.
Intellectual disability v2.468 GNPTG Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPTG.
Intellectual disability v2.468 GNPTAB Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPTAB.
Intellectual disability v2.468 GNPAT Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPAT.
Intellectual disability v2.468 GNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GNB1.
Intellectual disability v2.468 GNAS Louise Daugherty Source Victorian Clinical Genetics Services was added to GNAS.
Intellectual disability v2.468 GNAI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GNAI1.
Intellectual disability v2.468 GM2A Louise Daugherty Source Victorian Clinical Genetics Services was added to GM2A.
Intellectual disability v2.468 GLYCTK Louise Daugherty Source Victorian Clinical Genetics Services was added to GLYCTK.
Intellectual disability v2.468 GLUL Louise Daugherty Source Victorian Clinical Genetics Services was added to GLUL.
Intellectual disability v2.468 GLRA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLRA1.
Intellectual disability v2.468 GLI3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLI3.
Intellectual disability v2.468 GLI2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLI2.
Intellectual disability v2.468 GK Louise Daugherty Source Victorian Clinical Genetics Services was added to GK.
Intellectual disability v2.468 GIGYF2 Louise Daugherty gene: GIGYF2 was added
gene: GIGYF2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GIGYF2 was set to
Intellectual disability v2.468 GHR Louise Daugherty Source Victorian Clinical Genetics Services was added to GHR.
Intellectual disability v2.468 GFM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GFM1.
Intellectual disability v2.468 GFAP Louise Daugherty Source Victorian Clinical Genetics Services was added to GFAP.
Intellectual disability v2.468 GEMIN4 Louise Daugherty Source Victorian Clinical Genetics Services was added to GEMIN4.
Intellectual disability v2.468 GDI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GDI1.
Intellectual disability v2.468 GCK Louise Daugherty gene: GCK was added
gene: GCK was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GCK was set to
Intellectual disability v2.468 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to
Intellectual disability v2.468 GBA Louise Daugherty Source Victorian Clinical Genetics Services was added to GBA.
Intellectual disability v2.468 GATM Louise Daugherty Source Victorian Clinical Genetics Services was added to GATM.
Intellectual disability v2.468 GAN Louise Daugherty gene: GAN was added
gene: GAN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GAN was set to
Intellectual disability v2.468 GAMT Louise Daugherty Source Victorian Clinical Genetics Services was added to GAMT.
Intellectual disability v2.468 GALE Louise Daugherty Source Victorian Clinical Genetics Services was added to GALE.
Intellectual disability v2.468 GABRG3 Louise Daugherty gene: GABRG3 was added
gene: GABRG3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRG3 was set to
Intellectual disability v2.468 GABRG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GABRG2.
Intellectual disability v2.468 GABRA5 Louise Daugherty gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRA5 was set to
Intellectual disability v2.468 G6PC3 Louise Daugherty gene: G6PC3 was added
gene: G6PC3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to
Intellectual disability v2.468 FZD3 Louise Daugherty gene: FZD3 was added
gene: FZD3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FZD3 was set to
Intellectual disability v2.468 FTSJ1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FTSJ1.
Intellectual disability v2.468 FTO Louise Daugherty Source Victorian Clinical Genetics Services was added to FTO.
Intellectual disability v2.468 FOXP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXP2.
Intellectual disability v2.468 FOXP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXP1.
Intellectual disability v2.468 FOXG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXG1.
Intellectual disability v2.468 FOLR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOLR1.
Intellectual disability v2.468 FMR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FMR1.
Intellectual disability v2.468 FMN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FMN2.
Intellectual disability v2.468 FLNA Louise Daugherty Source Victorian Clinical Genetics Services was added to FLNA.
Intellectual disability v2.468 FKTN Louise Daugherty Source Victorian Clinical Genetics Services was added to FKTN.
Intellectual disability v2.468 FKRP Louise Daugherty Source Victorian Clinical Genetics Services was added to FKRP.
Intellectual disability v2.468 FIBP Louise Daugherty Source Victorian Clinical Genetics Services was added to FIBP.
Intellectual disability v2.468 FGFR3 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR3.
Intellectual disability v2.468 FGFR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR2.
Intellectual disability v2.468 FGFR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR1.
Intellectual disability v2.468 FGF14 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGF14.
Intellectual disability v2.468 FGD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGD1.
Intellectual disability v2.468 FDXR Louise Daugherty gene: FDXR was added
gene: FDXR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FDXR was set to
Intellectual disability v2.468 FBN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FBN2.
Intellectual disability v2.468 FBN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FBN1.
Intellectual disability v2.468 FBLN5 Louise Daugherty gene: FBLN5 was added
gene: FBLN5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FBLN5 was set to
Intellectual disability v2.468 FAR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FAR1.
Intellectual disability v2.468 FANCG Louise Daugherty Source Victorian Clinical Genetics Services was added to FANCG.
Intellectual disability v2.468 FANCB Louise Daugherty Source Victorian Clinical Genetics Services was added to FANCB.
Intellectual disability v2.468 FAM126A Louise Daugherty Source Victorian Clinical Genetics Services was added to FAM126A.
Intellectual disability v2.468 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: F5 was set to
Intellectual disability v2.468 EZH2 Louise Daugherty Source Victorian Clinical Genetics Services was added to EZH2.
Intellectual disability v2.468 EXTL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EXTL3.
Intellectual disability v2.468 ETHE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ETHE1.
Intellectual disability v2.468 ERCC8 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC8.
Intellectual disability v2.468 ERCC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC6.
Intellectual disability v2.468 ERCC5 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC5.
Intellectual disability v2.468 ERCC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC3.
Intellectual disability v2.468 ERCC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC2.
Intellectual disability v2.468 EPB41L1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EPB41L1.
Intellectual disability v2.468 EP300 Louise Daugherty Source Victorian Clinical Genetics Services was added to EP300.
Intellectual disability v2.468 EN2 Louise Daugherty gene: EN2 was added
gene: EN2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: EN2 was set to
Intellectual disability v2.468 ELOVL4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ELOVL4.
Intellectual disability v2.468 EIF4A3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EIF4A3.
Intellectual disability v2.468 EIF2S3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EIF2S3.
Intellectual disability v2.468 EHMT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EHMT1.
Intellectual disability v2.468 EFNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EFNB1.
Intellectual disability v2.468 EEF1A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to EEF1A2.
Intellectual disability v2.468 EED Louise Daugherty Source Victorian Clinical Genetics Services was added to EED.
Intellectual disability v2.468 EBP Louise Daugherty Source Victorian Clinical Genetics Services was added to EBP.
Intellectual disability v2.468 EBF3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EBF3.
Intellectual disability v2.468 DYRK1A Louise Daugherty Source Victorian Clinical Genetics Services was added to DYRK1A.
Intellectual disability v2.468 DYNC1H1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DYNC1H1.
Intellectual disability v2.468 DSCAM Louise Daugherty gene: DSCAM was added
gene: DSCAM was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to
Intellectual disability v2.468 DRD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DRD2.
Intellectual disability v2.468 DPYD Louise Daugherty Source Victorian Clinical Genetics Services was added to DPYD.
Intellectual disability v2.468 DPM3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPM3.
Intellectual disability v2.468 DPM2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPM2.
Intellectual disability v2.468 DPAGT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPAGT1.
Intellectual disability v2.468 DOLK Louise Daugherty Source Victorian Clinical Genetics Services was added to DOLK.
Intellectual disability v2.468 DOCK8 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK8.
Intellectual disability v2.468 DOCK7 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK7.
Intellectual disability v2.468 DOCK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK3.
Intellectual disability v2.468 DNMT3A Louise Daugherty Source Victorian Clinical Genetics Services was added to DNMT3A.
Intellectual disability v2.468 DNM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DNM1.
Intellectual disability v2.468 DNAJC3 Louise Daugherty gene: DNAJC3 was added
gene: DNAJC3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC3 was set to
Intellectual disability v2.468 DNAJC12 Louise Daugherty Source Victorian Clinical Genetics Services was added to DNAJC12.
Intellectual disability v2.468 DMD Louise Daugherty Source Victorian Clinical Genetics Services was added to DMD.
Intellectual disability v2.468 DLGAP2 Louise Daugherty gene: DLGAP2 was added
gene: DLGAP2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DLGAP2 was set to
Intellectual disability v2.468 DLG3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DLG3.
Intellectual disability v2.468 DKC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DKC1.
Intellectual disability v2.468 DIS3L2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DIS3L2.
Intellectual disability v2.468 DIP2B Louise Daugherty Source Victorian Clinical Genetics Services was added to DIP2B.
Intellectual disability v2.468 DHX30 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHX30.
Intellectual disability v2.468 DHCR7 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHCR7.
Intellectual disability v2.468 DHCR24 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHCR24.
Intellectual disability v2.468 DEAF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DEAF1.
Intellectual disability v2.468 DDX58 Louise Daugherty gene: DDX58 was added
gene: DDX58 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX58 was set to
Intellectual disability v2.468 DDX3X Louise Daugherty Source Victorian Clinical Genetics Services was added to DDX3X.
Intellectual disability v2.468 DDOST Louise Daugherty Source Victorian Clinical Genetics Services was added to DDOST.
Intellectual disability v2.468 DCX Louise Daugherty Source Victorian Clinical Genetics Services was added to DCX.
Intellectual disability v2.468 DBT Louise Daugherty Source Victorian Clinical Genetics Services was added to DBT.
Intellectual disability v2.468 DARS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DARS2.
Intellectual disability v2.468 DAB1 Louise Daugherty gene: DAB1 was added
gene: DAB1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DAB1 was set to
Intellectual disability v2.468 D2HGDH Louise Daugherty Source Victorian Clinical Genetics Services was added to D2HGDH.
Intellectual disability v2.468 CYP27A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CYP27A1.
Intellectual disability v2.468 CYB5R3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CYB5R3.
Intellectual disability v2.468 CWC27 Louise Daugherty Source Victorian Clinical Genetics Services was added to CWC27.
Intellectual disability v2.468 CUL4B Louise Daugherty Source Victorian Clinical Genetics Services was added to CUL4B.
Intellectual disability v2.468 CUL3 Louise Daugherty gene: CUL3 was added
gene: CUL3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL3 was set to
Intellectual disability v2.468 CTSA Louise Daugherty Source Victorian Clinical Genetics Services was added to CTSA.
Intellectual disability v2.468 CTNND2 Louise Daugherty gene: CTNND2 was added
gene: CTNND2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNND2 was set to
Intellectual disability v2.468 CTNNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CTNNB1.
Intellectual disability v2.468 CTCF Louise Daugherty Source Victorian Clinical Genetics Services was added to CTCF.
Intellectual disability v2.468 CTC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CTC1.
Intellectual disability v2.468 CSPP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CSPP1.
Intellectual disability v2.468 CSNK2B Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2B.
Intellectual disability v2.468 CSNK2A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2A1.
Intellectual disability v2.468 CREBBP Louise Daugherty Source Victorian Clinical Genetics Services was added to CREBBP.
Intellectual disability v2.468 CRBN Louise Daugherty Source Victorian Clinical Genetics Services was added to CRBN.
Intellectual disability v2.468 CRADD Louise Daugherty Source Victorian Clinical Genetics Services was added to CRADD.
Intellectual disability v2.468 CPS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CPS1.
Intellectual disability v2.468 CPD Louise Daugherty gene: CPD was added
gene: CPD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CPD was set to
Intellectual disability v2.468 CPA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to CPA6.
Intellectual disability v2.468 CP Louise Daugherty Source Victorian Clinical Genetics Services was added to CP.
Intellectual disability v2.468 COQ5 Louise Daugherty Source Victorian Clinical Genetics Services was added to COQ5.
Intellectual disability v2.468 COQ4 Louise Daugherty Source Victorian Clinical Genetics Services was added to COQ4.
Intellectual disability v2.468 COLEC10 Louise Daugherty gene: COLEC10 was added
gene: COLEC10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COLEC10 was set to
Intellectual disability v2.468 COL25A1 Louise Daugherty gene: COL25A1 was added
gene: COL25A1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL25A1 was set to
Intellectual disability v2.468 COL1A2 Louise Daugherty gene: COL1A2 was added
gene: COL1A2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A2 was set to
Intellectual disability v2.468 COG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG8.
Intellectual disability v2.468 COG7 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG7.
Intellectual disability v2.468 COG5 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG5.
Intellectual disability v2.468 COG4 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG4.
Intellectual disability v2.468 COG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG1.
Intellectual disability v2.468 COASY Louise Daugherty Source Victorian Clinical Genetics Services was added to COASY.
Intellectual disability v2.468 COA3 Louise Daugherty gene: COA3 was added
gene: COA3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COA3 was set to
Intellectual disability v2.468 CNTNAP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNTNAP2.
Intellectual disability v2.468 CNTN4 Louise Daugherty gene: CNTN4 was added
gene: CNTN4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTN4 was set to
Intellectual disability v2.468 CNTN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNTN3.
Intellectual disability v2.468 CNOT3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNOT3.
Intellectual disability v2.468 CNKSR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNKSR2.
Intellectual disability v2.468 CLPP Louise Daugherty gene: CLPP was added
gene: CLPP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CLPP was set to
Intellectual disability v2.468 CLPB Louise Daugherty Source Victorian Clinical Genetics Services was added to CLPB.
Intellectual disability v2.468 CLN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CLN3.
Intellectual disability v2.468 CLIC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CLIC2.
Intellectual disability v2.468 CKAP2L Louise Daugherty Source Victorian Clinical Genetics Services was added to CKAP2L.
Intellectual disability v2.468 CIC Louise Daugherty Source Victorian Clinical Genetics Services was added to CIC.
Intellectual disability v2.468 CHRNA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHRNA4.
Intellectual disability v2.468 CHKB Louise Daugherty Source Victorian Clinical Genetics Services was added to CHKB.
Intellectual disability v2.468 CHD8 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD8.
Intellectual disability v2.468 CHD7 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD7.
Intellectual disability v2.468 CHD4 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD4.
Intellectual disability v2.468 CHD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD2.
Intellectual disability v2.468 CEP83 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP83.
Intellectual disability v2.468 CEP57 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP57.
Intellectual disability v2.468 CEP41 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP41.
Intellectual disability v2.468 CEP290 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP290.
Intellectual disability v2.468 CENPJ Louise Daugherty Source Victorian Clinical Genetics Services was added to CENPJ.
Intellectual disability v2.468 CENPF Louise Daugherty Source Victorian Clinical Genetics Services was added to CENPF.
Intellectual disability v2.468 CDKN1C Louise Daugherty Source Victorian Clinical Genetics Services was added to CDKN1C.
Intellectual disability v2.468 CDKL5 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDKL5.
Intellectual disability v2.468 CDK5RAP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDK5RAP2.
Intellectual disability v2.468 CDK5R1 Louise Daugherty gene: CDK5R1 was added
gene: CDK5R1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK5R1 was set to
Intellectual disability v2.468 CDK13 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDK13.
Intellectual disability v2.468 CDK10 Louise Daugherty gene: CDK10 was added
gene: CDK10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK10 was set to
Intellectual disability v2.468 CDH15 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDH15.
Intellectual disability v2.468 CDC42 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDC42.
Intellectual disability v2.468 CCND2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CCND2.
Intellectual disability v2.468 CCDC88C Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC88C.
Intellectual disability v2.468 CCDC88A Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC88A.
Intellectual disability v2.468 CCDC22 Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC22.
Intellectual disability v2.468 CC2D2A Louise Daugherty Source Victorian Clinical Genetics Services was added to CC2D2A.
Intellectual disability v2.468 CC2D1A Louise Daugherty Source Victorian Clinical Genetics Services was added to CC2D1A.
Intellectual disability v2.468 CBS Louise Daugherty Source Victorian Clinical Genetics Services was added to CBS.
Intellectual disability v2.468 CASK Louise Daugherty Source Victorian Clinical Genetics Services was added to CASK.
Intellectual disability v2.468 CANT1 Louise Daugherty gene: CANT1 was added
gene: CANT1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CANT1 was set to
Intellectual disability v2.468 CAMTA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMTA1.
Intellectual disability v2.468 CAMK2B Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMK2B.
Intellectual disability v2.468 CAMK2A Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMK2A.
Intellectual disability v2.468 CACNG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNG2.
Intellectual disability v2.468 CACNA2D3 Louise Daugherty gene: CACNA2D3 was added
gene: CACNA2D3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA2D3 was set to
Intellectual disability v2.468 CACNA1H Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1H.
Intellectual disability v2.468 CACNA1F Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1F.
Intellectual disability v2.468 CACNA1C Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1C.
Intellectual disability v2.468 CA5A Louise Daugherty gene: CA5A was added
gene: CA5A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CA5A was set to
Intellectual disability v2.468 C3orf58 Louise Daugherty gene: C3orf58 was added
gene: C3orf58 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: C3orf58 was set to
Intellectual disability v2.468 C2CD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to C2CD3.
Intellectual disability v2.468 C12orf57 Louise Daugherty Source Victorian Clinical Genetics Services was added to C12orf57.
Intellectual disability v2.468 C12orf4 Louise Daugherty Source Victorian Clinical Genetics Services was added to C12orf4.
Intellectual disability v2.468 BUB1B Louise Daugherty Source Victorian Clinical Genetics Services was added to BUB1B.
Intellectual disability v2.468 BRWD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRWD3.
Intellectual disability v2.468 BRPF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRPF1.
Intellectual disability v2.468 BRIP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRIP1.
Intellectual disability v2.468 BRF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRF1.
Intellectual disability v2.468 BRAF Louise Daugherty Source Victorian Clinical Genetics Services was added to BRAF.
Intellectual disability v2.468 BPTF Louise Daugherty Source Victorian Clinical Genetics Services was added to BPTF.
Intellectual disability v2.468 BIN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BIN1.
Intellectual disability v2.468 BCS1L Louise Daugherty Source Victorian Clinical Genetics Services was added to BCS1L.
Intellectual disability v2.468 BCOR Louise Daugherty Source Victorian Clinical Genetics Services was added to BCOR.
Intellectual disability v2.468 BCL11A Louise Daugherty Source Victorian Clinical Genetics Services was added to BCL11A.
Intellectual disability v2.468 BCKDK Louise Daugherty Source Victorian Clinical Genetics Services was added to BCKDK.
Intellectual disability v2.468 BBS9 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS9.
Intellectual disability v2.468 BBS7 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS7.
Intellectual disability v2.468 BBS5 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS5.
Intellectual disability v2.468 BBS4 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS4.
Intellectual disability v2.468 BBS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS2.
Intellectual disability v2.468 BBS12 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS12.
Intellectual disability v2.468 BBS10 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS10.
Intellectual disability v2.468 BBS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS1.
Intellectual disability v2.468 B4GALT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to B4GALT1.
Intellectual disability v2.468 AVPR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AVPR2.
Intellectual disability v2.468 AVP Louise Daugherty gene: AVP was added
gene: AVP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AVP was set to
Intellectual disability v2.468 AUTS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AUTS2.
Intellectual disability v2.468 AUH Louise Daugherty Source Victorian Clinical Genetics Services was added to AUH.
Intellectual disability v2.468 ATRX Louise Daugherty Source Victorian Clinical Genetics Services was added to ATRX.
Intellectual disability v2.468 ATP7A Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP7A.
Intellectual disability v2.468 ATP6AP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP6AP2.
Intellectual disability v2.468 ATP1A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP1A2.
Intellectual disability v2.468 ATM Louise Daugherty Source Victorian Clinical Genetics Services was added to ATM.
Intellectual disability v2.468 ATL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATL1.
Intellectual disability v2.468 ATIC Louise Daugherty Source Victorian Clinical Genetics Services was added to ATIC.
Intellectual disability v2.468 ASXL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASXL3.
Intellectual disability v2.468 ASXL2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASXL2.
Intellectual disability v2.468 ASS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASS1.
Intellectual disability v2.468 ASPM Louise Daugherty Source Victorian Clinical Genetics Services was added to ASPM.
Intellectual disability v2.468 ASPH Louise Daugherty gene: ASPH was added
gene: ASPH was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ASPH was set to
Intellectual disability v2.468 ASMT Louise Daugherty Source Victorian Clinical Genetics Services was added to ASMT.
Intellectual disability v2.468 ASH1L Louise Daugherty Source Victorian Clinical Genetics Services was added to ASH1L.
Intellectual disability v2.468 ARX Louise Daugherty Source Victorian Clinical Genetics Services was added to ARX.
Intellectual disability v2.468 ARV1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARV1.
Intellectual disability v2.468 ARID2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID2.
Intellectual disability v2.468 ARID1B Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID1B.
Intellectual disability v2.468 ARID1A Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID1A.
Intellectual disability v2.468 ARHGEF9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARHGEF9.
Intellectual disability v2.468 ARHGEF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARHGEF6.
Intellectual disability v2.468 ARG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARG1.
Intellectual disability v2.468 ARCN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARCN1.
Intellectual disability v2.468 AR Louise Daugherty Source Victorian Clinical Genetics Services was added to AR.
Intellectual disability v2.468 AQP7 Louise Daugherty gene: AQP7 was added
gene: AQP7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AQP7 was set to
Intellectual disability v2.468 APOPT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to APOPT1.
Intellectual disability v2.468 AP4S1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4S1.
Intellectual disability v2.468 AP4M1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4M1.
Intellectual disability v2.468 AP4E1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4E1.
Intellectual disability v2.468 AP4B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4B1.
Intellectual disability v2.468 AP3B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP3B1.
Intellectual disability v2.468 AP1S2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP1S2.
Intellectual disability v2.468 AP1S1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP1S1.
Intellectual disability v2.468 ANKRD11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ANKRD11.
Intellectual disability v2.468 ANK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ANK3.
Intellectual disability v2.468 AMER1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AMER1.
Intellectual disability v2.468 ALX4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALX4.
Intellectual disability v2.468 ALG9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG9.
Intellectual disability v2.468 ALG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG8.
Intellectual disability v2.468 ALG6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG6.
Intellectual disability v2.468 ALG3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG3.
Intellectual disability v2.468 ALG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG2.
Intellectual disability v2.468 ALG13 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG13.
Intellectual disability v2.468 ALG12 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG12.
Intellectual disability v2.468 ALG11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG11.
Intellectual disability v2.468 ALG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG1.
Intellectual disability v2.468 ALDH5A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH5A1.
Intellectual disability v2.468 ALDH4A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH4A1.
Intellectual disability v2.468 ALDH18A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH18A1.
Intellectual disability v2.468 AKT3 Louise Daugherty Source Victorian Clinical Genetics Services was added to AKT3.
Intellectual disability v2.468 AKAP6 Louise Daugherty Source Victorian Clinical Genetics Services was added to AKAP6.
Intellectual disability v2.468 AIFM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AIFM1.
Intellectual disability v2.468 AHI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AHI1.
Intellectual disability v2.468 AHDC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AHDC1.
Intellectual disability v2.468 AGTR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AGTR2.
Intellectual disability v2.468 AGT Louise Daugherty gene: AGT was added
gene: AGT was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AGT was set to
Intellectual disability v2.468 AGL Louise Daugherty Source Victorian Clinical Genetics Services was added to AGL.
Intellectual disability v2.468 AFP Louise Daugherty gene: AFP was added
gene: AFP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AFP was set to
Intellectual disability v2.468 AFF3 Louise Daugherty gene: AFF3 was added
gene: AFF3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AFF3 was set to
Intellectual disability v2.468 AFF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AFF2.
Intellectual disability v2.468 ADSL Louise Daugherty Source Victorian Clinical Genetics Services was added to ADSL.
Intellectual disability v2.468 ADNP Louise Daugherty Source Victorian Clinical Genetics Services was added to ADNP.
Intellectual disability v2.468 ADAR Louise Daugherty Source Victorian Clinical Genetics Services was added to ADAR.
Intellectual disability v2.468 ACY1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACY1.
Intellectual disability v2.468 ACTL6A Louise Daugherty Source Victorian Clinical Genetics Services was added to ACTL6A.
Intellectual disability v2.468 ACSL4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACSL4.
Intellectual disability v2.468 ACOX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACOX1.
Intellectual disability v2.468 ACO2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACO2.
Intellectual disability v2.468 ACAT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACAT1.
Intellectual disability v2.468 ACADSB Louise Daugherty gene: ACADSB was added
gene: ACADSB was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADSB was set to
Intellectual disability v2.468 ABCG5 Louise Daugherty gene: ABCG5 was added
gene: ABCG5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG5 was set to
Intellectual disability v2.468 ABCD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCD1.
Intellectual disability v2.468 ABCC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCC9.
Intellectual disability v2.468 ABCC8 Louise Daugherty gene: ABCC8 was added
gene: ABCC8 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC8 was set to
Intellectual disability v2.468 ABCC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCC6.
Intellectual disability v2.467 GRIA4 Louise Daugherty Classified gene: GRIA4 as Green List (high evidence)
Intellectual disability v2.467 GRIA4 Louise Daugherty Added comment: Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Intellectual disability v2.467 GRIA4 Louise Daugherty Gene: gria4 has been classified as Green List (High Evidence).
Intellectual disability v2.466 GRIA4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.466 GRIA4 Louise Daugherty Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Intellectual disability v2.465 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Intellectual disability v2.465 IBA57 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.465 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Intellectual disability v2.464 KDM1A Louise Daugherty Deleted their comment
Intellectual disability v2.464 IBA57 Louise Daugherty gene: IBA57 was added
gene: IBA57 was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 28671726; 23462291; 25971455; 28913435; 27785568
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones
Review for gene: IBA57 was set to GREEN
Added comment: New gene suggested by external expert (and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Sources: Expert list
Intellectual disability v2.463 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, 616728 to Cleft palate, psychomotor retardation, and distinctive facial features, 616728; Developmental delay
Intellectual disability v2.462 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.462 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.462 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.461 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.461 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.461 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.460 KDM1A Louise Daugherty Tag watchlist was removed from gene: KDM1A.
Intellectual disability v2.460 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.460 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.460 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.459 KDM1A Louise Daugherty Publications for gene: KDM1A were set to 26077434; 24838796
Intellectual disability v2.459 KDM1A Louise Daugherty Added comment: Comment on phenotypes: added MIMid
Intellectual disability v2.459 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, 616728
Intellectual disability v2.458 KDM1A Louise Daugherty edited their review of gene: KDM1A: Added comment: Recommendation that this gene should be Green. Three patients https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/, there is functional characterisation of the three described mutations https://www.ncbi.nlm.nih.gov/pubmed/27094131?dopt=Abstract and the patients seem to share a similar phenotype, which recapitulates features of other deleterious mutations in better-characterised lysine demethylase and chromatin remodelling genes. There is also a recurrent de novo variant p.Tyr831Cys which has been reported in two separate "autism spectrum" patients in large cohort studies. The gene is also extensively constrained against both missense and LOF variation in humans http://exac.broadinstitute.org/gene/ENSG00000004487. I think what's been reported so far is probably robust enough to use the gene clinically.Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN
Intellectual disability v2.458 PHIP Louise Daugherty Classified gene: PHIP as Green List (high evidence)
Intellectual disability v2.458 PHIP Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. Publications now support gene-disease association and rating of this gene to Green on the ID panel.
Intellectual disability v2.458 PHIP Louise Daugherty Gene: phip has been classified as Green List (High Evidence).
Intellectual disability v2.457 PHIP Louise Daugherty Added comment: Comment on phenotypes: updated with OMIN and MIMid
Intellectual disability v2.457 PHIP Louise Daugherty Phenotypes for gene: PHIP were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
Intellectual disability v2.456 PHIP Louise Daugherty Publications for gene: PHIP were set to 0
Intellectual disability v2.455 PHIP Louise Daugherty edited their review of gene: PHIP: Added comment: Recommendation that this gene should be Green based on recent publication PMID:29209020, more than 20 unrelated cases Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN; Changed publications: 29209020, 23033978, 27900362; Changed phenotypes: Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.455 PACS2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the intellectual disability panel
Intellectual disability v2.455 PACS2 Louise Daugherty Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067 to Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum
Intellectual disability v2.454 GRIA4 Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence)
Intellectual disability v2.454 GRIA4 Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.453 GRIA4 Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence)
Intellectual disability v2.453 GRIA4 Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.452 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.451 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.450 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.449 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.448 FBXO11 Sarah Leigh Classified gene: FBXO11 as Amber List (moderate evidence)
Intellectual disability v2.448 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.448 FBXO11 Sarah Leigh Classified gene: FBXO11 as Amber List (moderate evidence)
Intellectual disability v2.448 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.447 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Intellectual disability v2.447 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert review, who notes that there are 17 unrelated individuals with de novo variants in this gene reported in the literature to date, ID is part of the phenotype. There are enough publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.447 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Intellectual disability v2.446 CDC42 Louise Daugherty Publications for gene: CDC42 were set to 26386261, 26708094, 29394990
Intellectual disability v2.445 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome to Takenouchi-Kosaki syndrome, 616737; Intellectual disability
Intellectual disability v2.444 DCHS1 Rebecca Foulger Source Other was added to DCHS1.
Phenotypes for gene: DCHS1 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; Van Maldergem syndrome 1, 601390
Intellectual disability v2.443 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Intellectual disability v2.443 ISCA-37431-Gain Louise Daugherty Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37431-Gain were set to 25205021; 22241097; 18183042
Phenotypes for Region: ISCA-37431-Gain were set to early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism; Chromosome 17q11.2 deletion syndrome, 1.4Mb; DD/ID, facial dysmorphisms, and seizures
Intellectual disability v2.443 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Intellectual disability v2.442 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.442 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene
Intellectual disability v2.442 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.442 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.442 C12orf4 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Intellectual disability v2.442 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.441 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.441 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene.
Intellectual disability v2.441 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.441 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.441 C12orf4 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Intellectual disability v2.441 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.440 C12orf4 Louise Daugherty Publications for gene: C12orf4 were set to 27311568, 25558065
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia to Autosomal recessive intellectual disability, Attention deficit hyperactivity disorder, Muscular hypotonia
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability to Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia
Intellectual disability v2.438 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from to Autosomal recessive intellectual disability
Intellectual disability v2.437 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability v2.436 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Intellectual disability v2.435 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.435 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.434 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.434 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.432 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.432 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.431 BRF1 Louise Daugherty Classified gene: BRF1 as Green List (high evidence)
Intellectual disability v2.431 BRF1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.431 BRF1 Louise Daugherty Gene: brf1 has been classified as Green List (High Evidence).
Intellectual disability v2.430 BRF1 Louise Daugherty edited their review of gene: BRF1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated individuals reported in the literature, ID is part of the phenotype.; Changed rating: GREEN
Intellectual disability v2.430 BRF1 Louise Daugherty Added comment: Comment on phenotypes: added MIMid form OMIM
Intellectual disability v2.430 BRF1 Louise Daugherty Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome to Cerebellofaciodental syndrome, 616202; intellectual disability
Intellectual disability v2.429 BPTF Louise Daugherty Classified gene: BPTF as Green List (high evidence)
Intellectual disability v2.429 BPTF Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.429 BPTF Louise Daugherty Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability v2.428 BPTF Louise Daugherty edited their review of gene: BPTF: Added comment: New gene added by external expert. From OMIM; Stankiewicz et al. 2017 (PMID: 28942966) reported 10 unrelated patients, ranging from 2 to 13 years of age, with a similar neurodevelopmental disorder. All patients had delayed psychomotor development and intellectual disability with delayed speech.; Changed rating: GREEN
Intellectual disability v2.428 BPTF Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.428 BPTF Louise Daugherty Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; intellectual disability
Intellectual disability v2.427 BCKDK Louise Daugherty Classified gene: BCKDK as Green List (high evidence)
Intellectual disability v2.427 BCKDK Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate gene Green.
Intellectual disability v2.427 BCKDK Louise Daugherty Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability v2.426 BCKDK Louise Daugherty edited their review of gene: BCKDK: Added comment: New gene added by external expert review, who notes that there are multiple unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.426 BCKDK Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIMid from OMIM
Intellectual disability v2.426 BCKDK Louise Daugherty Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923; Intellectual disability
Intellectual disability v2.425 BCKDK Louise Daugherty Publications for gene: BCKDK were set to 22956686, 24449431
Intellectual disability v2.424 ARCN1 Louise Daugherty Classified gene: ARCN1 as Green List (high evidence)
Intellectual disability v2.424 ARCN1 Louise Daugherty Added comment: Comment on list classification: New gene added by External review and reviewed by curation team, enough evidence to support gene-disease association and rating of this gene to Green.
Intellectual disability v2.424 ARCN1 Louise Daugherty Gene: arcn1 has been classified as Green List (High Evidence).
Intellectual disability v2.423 ARCN1 Louise Daugherty edited their review of gene: ARCN1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated families reported in the literature (From OMIM based on report of 4 patients from 3 families- single report PMID:27476655, ID is part of the phenotype. Publication supports gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.423 ARCN1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.423 ARCN1 Louise Daugherty Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Intellectual disability v2.422 AP1S1 Louise Daugherty Added comment: Comment on phenotypes: extended phenotype description, added OMIM MIMid
Intellectual disability v2.422 AP1S1 Louise Daugherty Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome to MEDNIK syndrome, 609313; MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Intellectual disability v2.421 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
Intellectual disability v2.421 AP1S1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. Rated green based on external review comment, internal assessment (supportive functional data) and further publications to support gene-disease association.
Intellectual disability v2.421 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Intellectual disability v2.420 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: New gene added by external expert review, who notes French Canadian (founder effect); however, Sephardic Jewish family also reported with a different variant. ID is part of the phenotype, added publication to support gene-disease association.
The patients cases described in the literature to date are likely to be linked to a founder effect. 5 children from 3 families all from Quebec, Canada (with the same mutation) and 1 patient from a consanguineous Sephardic-Jewish background has been described (a different mutation in AP1S1).
However, this gene was rated Green on the Vici Syndrome and other autophagy disorders panel for MEDNIK syndrome after discussion with Emma Baple (South West GMC and Genomics England); as there is a second, independent case with a different variant, plus functional data, so this gene can be green on the ID panel, since intellectual disability is part of the phenotype; Changed rating: GREEN
Intellectual disability v2.420 AP1S1 Louise Daugherty Added comment: Comment on publications: Additional publications to support upgrading of the gene to Green
Intellectual disability v2.420 AP1S1 Louise Daugherty Publications for gene: AP1S1 were set to 23423674
Intellectual disability v2.419 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Intellectual disability v2.419 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.418 LYST Louise Daugherty Deleted their comment
Intellectual disability v2.418 KIF5A Louise Daugherty edited their review of gene: KIF5A: Changed rating: GREEN
Intellectual disability v2.418 KIF5A Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Intellectual disability v2.418 KIF5A Louise Daugherty Publications for gene: KIF5A were set to
Intellectual disability v2.417 KIF5A Louise Daugherty Added comment: Comment on phenotypes: removed Spastic paraplegia 10, autosomal dominant, 604187, this is not a relevant phenotype on this panel.
Intellectual disability v2.417 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant, 604187 to Myoclonus, intractable, neonatal, 617235; intellectual disability
Intellectual disability v2.416 KIF5A Louise Daugherty Classified gene: KIF5A as Green List (high evidence)
Intellectual disability v2.416 KIF5A Louise Daugherty Gene: kif5a has been classified as Green List (High Evidence).
Intellectual disability v2.415 KIF5A Louise Daugherty Classified gene: KIF5A as Amber List (moderate evidence)
Intellectual disability v2.415 KIF5A Louise Daugherty Added comment: Comment on list classification: Changed from Red to green, enough evidence to support ID phenotype
Intellectual disability v2.415 KIF5A Louise Daugherty Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.414 PIGH Louise Daugherty Classified gene: PIGH as Amber List (moderate evidence)
Intellectual disability v2.414 PIGH Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber, recent publications support gene-disease association three affecteds (2 unrelated) cases
Intellectual disability v2.414 PIGH Louise Daugherty Gene: pigh has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.413 PIGH Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene
Intellectual disability v2.413 PIGH Louise Daugherty Publications for gene: PIGH were set to 29603516
Intellectual disability v2.412 PIGH Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Intellectual disability v2.412 PIGH Louise Daugherty Phenotypes for gene: PIGH were changed from hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect, 17; 618010; Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Intellectual disability v2.411 ALX4 Louise Daugherty edited their review of gene: ALX4: Added comment: In view of external Green review and after internal review it was decided to keep this gene Amber on the ID panel, as it does not seem to be a consistently predominant feature. ALX4 is noted as having significant findings wrt PMID 29215649 but phenotypically supports inclusion on the craniosynostosis panel, where this gene is rated as Green; Changed rating: AMBER
Intellectual disability v2.411 CCDC8 Louise Daugherty Classified gene: CCDC8 as Red List (low evidence)
Intellectual disability v2.411 CCDC8 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.411 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability v2.410 CISD2 Louise Daugherty Classified gene: CISD2 as Red List (low evidence)
Intellectual disability v2.410 CISD2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.410 CISD2 Louise Daugherty Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.409 CISD2 Louise Daugherty reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.409 EDNRB Louise Daugherty Classified gene: EDNRB as Red List (low evidence)
Intellectual disability v2.409 EDNRB Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.409 EDNRB Louise Daugherty Gene: ednrb has been classified as Red List (Low Evidence).
Intellectual disability v2.408 EDNRB Louise Daugherty edited their review of gene: EDNRB: Changed rating: RED
Intellectual disability v2.408 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.408 GBA Louise Daugherty commented on gene: GBA: In view of an external green review, this gene was reviewed again internally and with out internal clinical team. it was decided his gene should remain Amber. It was noted that the commonest type is type 1, where ID is not a clear feature, and that there are sufficient other features to suggest a metabolic / storage dysfunction in all types of Gaucher disease to prompt diagnosis via the undiagnosed metabolic route. So we have decided to leave this gene as amber on ID panel in view of the likely low yield and the complication of the later incidental neurological risks.
Intellectual disability v2.408 ORC1 Louise Daugherty Publications for gene: ORC1 were set to
Intellectual disability v2.407 ORC1 Louise Daugherty Classified gene: ORC1 as Red List (low evidence)
Intellectual disability v2.407 ORC1 Louise Daugherty Added comment: Comment on list classification: Although variants of ORC1 can result in microcephaly phenotype, there is no strong evidence for ID. single patient with ORC1 variants was described in this paper HERE, they had mild intellectual disability.
Intellectual disability v2.407 ORC1 Louise Daugherty Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability v2.406 CDT1 Louise Daugherty Classified gene: CDT1 as Red List (low evidence)
Intellectual disability v2.406 CDT1 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.406 CDT1 Louise Daugherty Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability v2.405 ORC6 Louise Daugherty Classified gene: ORC6 as Amber List (moderate evidence)
Intellectual disability v2.405 ORC6 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Amber. There are some reports of ID but mild ID only.
Intellectual disability v2.405 ORC6 Louise Daugherty Gene: orc6 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.404 ORC4 Louise Daugherty Classified gene: ORC4 as Red List (low evidence)
Intellectual disability v2.404 ORC4 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.404 ORC4 Louise Daugherty Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability v2.403 GSPT2 Louise Daugherty Classified gene: GSPT2 as Red List (low evidence)
Intellectual disability v2.403 GSPT2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.403 GSPT2 Louise Daugherty Gene: gspt2 has been classified as Red List (Low Evidence).
Intellectual disability v2.402 ISCA-37433-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
Added phenotypes 608363; Chromosome 22q11.2 microduplication syndrome; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; delayed psychomotor development, growth retardation, and/or hypotonia for Region: ISCA-37433-Gain
Intellectual disability v2.402 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Intellectual disability v2.402 ISCA-37446-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
Added phenotypes intellectual disability and congenital abnormalities,Autism; chromosome 22q11.2 microduplication; 608363; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal for Region: ISCA-37446-Gain
Intellectual disability v2.402 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Added comment: Comment on phenotypes: minor amendment to type in phenotype
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Phenotypes for Region: ISCA-37404-Gain were changed from chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.400 ISCA-37478-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37478-Gain was changed from None to .
Source ClinGen was added to Region: ISCA-37478-Gain.
Intellectual disability v2.400 ISCA-37433-Gain Louise Daugherty GRCh38 position for ISCA-37433-Gain was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37446-Gain Louise Daugherty GRCh38 position for ISCA-37446-Gain was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.400 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.399 ZSWIM6 Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6.
Intellectual disability v2.399 ISCA-37478-Gain Louise Daugherty GRCh38 position for ISCA-37478-Gain was changed from - to 23513243-28312040.
Haploinsufficiency Score for ISCA-37478-Gain was changed from to None.
Source ClinGen was removed from Region: ISCA-37478-Gain.
Source Other was added to Region: ISCA-37478-Gain.
Intellectual disability v2.398 ISCA-37404-Gain Louise Daugherty Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37404-Gain were set to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.398 ISCA-37418-Gain Louise Daugherty Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Gain were set to infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies; 610883; characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated
Intellectual disability v2.398 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Intellectual disability v2.398 ISCA-37421-Gain Louise Daugherty Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37421-Gain were set to 3298277; 3817079
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome; ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis; 612475; 1q21.1 microduplication syndrome
Intellectual disability v2.398 ISCA-37421-Loss Louise Daugherty Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37421-Loss were set to dysmorphic features; 612474; Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts; mild to moderate developmental delay
Intellectual disability v2.398 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Intellectual disability v2.398 ISCA-37423-Loss Louise Daugherty Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability
Intellectual disability v2.398 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Intellectual disability v2.398 ISCA-37430-Gain Louise Daugherty Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Gain were set to 23813913; 19520700; 19136950
Phenotypes for Region: ISCA-37430-Gain were set to 613215; Chromosome 17p13.3 duplication syndrome; variable psychomotor delay and dysmorphic features; 17q11.2 microduplication syndrome
Intellectual disability v2.398 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Intellectual disability v2.398 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Intellectual disability v2.398 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Intellectual disability v2.398 ISCA-37433-Gain Louise Daugherty Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to 17250668; 20301749; 18414210
Phenotypes for Region: ISCA-37433-Gain were set to delayed psychomotor development, growth retardation, and/or hypotonia; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; Chromosome 22q11.2 microduplication syndrome; 608363
Intellectual disability v2.398 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Intellectual disability v2.398 ISCA-37446-Gain Louise Daugherty Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to 23044707; 22970919
Phenotypes for Region: ISCA-37446-Gain were set to chromosome 22q11.2 microduplication; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal; 608363; intellectual disability and congenital abnormalities,Autism
Intellectual disability v2.398 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits
Intellectual disability v2.398 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Intellectual disability v2.398 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Intellectual disability v2.398 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Intellectual disability v2.398 ISCA-37443-Loss Louise Daugherty Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37443-Loss were set to . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth; 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425; Chromosome 3q29 microdeletion syndrome
Intellectual disability v2.398 ISCA-37500-Loss Louise Daugherty Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37500-Loss were set to 23166063; 17847001; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to mild to moderate cognitive deficit; Diamond-Blackfan anemia; intellectual disability; 614294; anemia; congenital diaphragmatic hernia; cryptorchidism in males; severe speech and psychomotor delay; mental retardation; postnatal short stature; behavioral problem; mild dysmorphic feature; developmental delay
Intellectual disability v2.398 ISCA-37392-Gain Louise Daugherty Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Gain were set to 26610320
Phenotypes for Region: ISCA-37392-Gain were set to intellectual disability; 609757; behavior problems; abnormal gait and station; cardiovascular disease; phonologic disorders; distinctive facial features; neurologic abnormalities; speech sound disorders
Intellectual disability v2.398 ISCA-37397-Gain Louise Daugherty Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Gain were set to 18414210; 22140377; 19193630
Phenotypes for Region: ISCA-37397-Gain were set to seizures; failure to thrive; ADHD; heart defects; speech disturbances; hypernasal speech; hearing impariment; abnormal behaviour; developmental delay; hypotonia; micro- or macrocephaly
Intellectual disability v2.398 ISCA-37397-Loss Louise Daugherty Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia
Intellectual disability v2.398 ISCA-37400-Gain Louise Daugherty Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to 614671; intellectual disability; delayed development; autism; specific deficits in speech or language
Intellectual disability v2.398 ISCA-37400-Loss Louise Daugherty Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Loss were set to 21841781; 18184952; 20301775
Phenotypes for Region: ISCA-37400-Loss were set to seizures; intellectual disability; Chiari malformations; cerebellar ectopia; 611913; mental retardation; Macrocephaly; developmental delay; autism spectrum disorder (ASD); vertebral anomalies
Intellectual disability v2.398 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Intellectual disability v2.398 ISCA-37439-Gain Louise Daugherty Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37439-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37439-Gain were set to 17546640; 20004760; 18047645
Phenotypes for Region: ISCA-37439-Gain were set to 28300815; Chromosome Xq duplication syndrome
Intellectual disability v2.398 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Intellectual disability v2.398 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Intellectual disability v2.398 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Intellectual disability v2.398 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Intellectual disability v2.398 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Intellectual disability v2.398 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Intellectual disability v2.398 ISCA-37415-Gain Louise Daugherty Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Gain were set to 23637818; 24352232; 21614007
Intellectual disability v2.398 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Intellectual disability v2.398 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Intellectual disability v2.398 ISCA-37424-Loss Louise Daugherty Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37424-Loss were set to 25217958; 20345475; 21248748; 24550761
Phenotypes for Region: ISCA-37424-Loss were set to PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia; PMID: 25217958 none specified; PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable
Intellectual disability v2.398 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Intellectual disability v2.398 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Intellectual disability v2.398 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Intellectual disability v2.398 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Intellectual disability v2.398 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Intellectual disability v2.398 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Intellectual disability v2.398 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Intellectual disability v2.398 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
Intellectual disability v2.398 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Intellectual disability v2.398 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Intellectual disability v2.398 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Intellectual disability GTPBP2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability PIGH Zornitza Stark reviewed gene: PIGH
Intellectual disability IGF1R Louise Daugherty classified IGF1R as Green List (high evidence)
Intellectual disability NRXN2 Louise Daugherty classified NRXN2 as Amber List (moderate evidence)
Intellectual disability NRXN2 Louise Daugherty commented on gene: NRXN2
Intellectual disability BCL11B Konstantinos Varvagiannis Added gene to panel
Intellectual disability CUX2 Konstantinos Varvagiannis reviewed gene: CUX2
Intellectual disability RORA Konstantinos Varvagiannis Added gene to panel
Intellectual disability PACS2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability SYT1 Louise Daugherty classified SYT1 as Green List (high evidence)
Intellectual disability SYT1 Louise Daugherty commented on gene: SYT1
Intellectual disability SYT1 Louise Daugherty edited their review of gene: SYT1
Intellectual disability CCDC8 Louise Daugherty reviewed gene: CCDC8
Intellectual disability CDKN1C Louise Daugherty edited their review of gene: CDKN1C
Intellectual disability IRF2BPL Konstantinos Varvagiannis Added gene to panel
Intellectual disability LNPK Konstantinos Varvagiannis Added gene to panel
Intellectual disability ADPRHL2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability SYT1 Zornitza Stark reviewed gene: SYT1
Intellectual disability TBC1D7 Konstantinos Varvagiannis reviewed gene: TBC1D7
Intellectual disability TBC1D7 Konstantinos Varvagiannis edited their review of gene: TBC1D7
Intellectual disability TUBG1 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GPHN Konstantinos Varvagiannis reviewed gene: GPHN
Intellectual disability MNX1 Konstantinos Varvagiannis reviewed gene: MNX1
Intellectual disability MTO1 Konstantinos Varvagiannis reviewed gene: MTO1
Intellectual disability ALX4 Louise Daugherty edited their review of gene: ALX4
Intellectual disability ATP6AP2 Louise Daugherty classified ATP6AP2 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty commented on gene: ATP6AP2
Intellectual disability CA2 Louise Daugherty commented on gene: CA2
Intellectual disability CA2 Louise Daugherty edited their review of gene: CA2
Intellectual disability KIF2A Konstantinos Varvagiannis reviewed gene: KIF2A
Intellectual disability GABBR2 Konstantinos Varvagiannis reviewed gene: GABBR2
Intellectual disability HERC2 Konstantinos Varvagiannis reviewed gene: HERC2
Intellectual disability ASNS Konstantinos Varvagiannis Added gene to panel
Intellectual disability TBC1D7 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GPT2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GABRB2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CNOT3 Louise Daugherty classified CNOT3 as Green List (high evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Red List (low evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Amber List (moderate evidence)
Intellectual disability ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability ERLIN2 Louise Daugherty reviewed gene: ERLIN2
Intellectual disability COQ5 Louise Daugherty edited their review of gene: COQ5
Intellectual disability EDNRB Louise Daugherty commented on gene: EDNRB
Intellectual disability EIF4A3 Louise Daugherty classified EIF4A3 as Green List (high evidence)
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability GBA Louise Daugherty edited their review of gene: GBA
Intellectual disability GSPT2 Louise Daugherty edited their review of gene: GSPT2
Intellectual disability HNRNPU Louise Daugherty commented on gene: HNRNPU
Intellectual disability HNRNPK Louise Daugherty classified HNRNPK as Green List (high evidence)
Intellectual disability HNRNPK Louise Daugherty edited their review of gene: HNRNPK
Intellectual disability DPF2 Louise Daugherty classified DPF2 as Green List (high evidence)
Intellectual disability DPF2 Louise Daugherty commented on gene: DPF2
Intellectual disability DPF2 Louise Daugherty reviewed gene: DPF2
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty commented on gene: IGF1R
Intellectual disability DPF2 Rachel Jones reviewed gene: DPF2
Intellectual disability NRXN2 Louise Daugherty edited their review of gene: NRXN2
Intellectual disability NRXN1 Louise Daugherty reviewed gene: NRXN1
Intellectual disability ATP1A3 Louise Daugherty classified ATP1A3 as Amber List (moderate evidence)
Intellectual disability APTX Louise Daugherty classified APTX as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability PRRT2 Louise Daugherty classified PRRT2 as Amber List (moderate evidence)
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability ATP1A3 Louise Daugherty reviewed gene: ATP1A3
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ASS1 Louise Daugherty classified ASS1 as Green List (high evidence)
Intellectual disability APTX Louise Daugherty reviewed gene: APTX
Intellectual disability ALS2 Louise Daugherty edited their review of gene: ALS2
Intellectual disability GNAI1 Louise Daugherty classified GNAI1 as Green List (high evidence)
Intellectual disability KCNQ5 Louise Daugherty classified KCNQ5 as Green List (high evidence)
Intellectual disability KCNQ5 Louise Daugherty reviewed gene: KCNQ5
Intellectual disability KCNQ3 Louise Daugherty classified KCNQ3 as Amber List (moderate evidence)
Intellectual disability MSL3 Louise Daugherty classified MSL3 as Amber List (moderate evidence)
Intellectual disability MSL3 Louise Daugherty commented on gene: MSL3
Intellectual disability MSL3 Louise Daugherty edited their review of gene: MSL3
Intellectual disability GRIA2 Louise Daugherty classified GRIA2 as Amber List (moderate evidence)
Intellectual disability ORC4 Louise Daugherty commented on gene: ORC4
Intellectual disability ORC4 Louise Daugherty edited their review of gene: ORC4
Intellectual disability ORC6 Louise Daugherty commented on gene: ORC6
Intellectual disability ORC6 Louise Daugherty reviewed gene: ORC6
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Green List (high evidence)
Intellectual disability PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability PCGF2 Louise Daugherty reviewed gene: PCGF2
Intellectual disability PDGFRB Louise Daugherty classified PDGFRB as Green List (high evidence)
Intellectual disability PDGFRB Louise Daugherty edited their review of gene: PDGFRB
Intellectual disability PDGFRB Louise Daugherty edited their review of gene: PDGFRB
Intellectual disability PGM3 Louise Daugherty classified PGM3 as Green List (high evidence)
Intellectual disability NAA15 Louise Daugherty classified NAA15 as Green List (high evidence)
Intellectual disability NAA15 Louise Daugherty edited their review of gene: NAA15
Intellectual disability SETD1B Louise Daugherty commented on gene: SETD1B
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability SETD1B Louise Daugherty commented on gene: SETD1B
Intellectual disability RBBP8 Louise Daugherty classified RBBP8 as Green List (high evidence)
Intellectual disability RBBP8 Louise Daugherty edited their review of gene: RBBP8
Intellectual disability RANBP2 Louise Daugherty classified RANBP2 as Red List (low evidence)
Intellectual disability RANBP2 Louise Daugherty edited their review of gene: RANBP2
Intellectual disability RANBP2 Louise Daugherty commented on gene: RANBP2
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty reviewed gene: PRRT2
Intellectual disability PTPN23 Louise Daugherty classified PTPN23 as Green List (high evidence)
Intellectual disability PTPN23 Louise Daugherty commented on gene: PTPN23
Intellectual disability QRICH1 Louise Daugherty classified QRICH1 as Green List (high evidence)
Intellectual disability RANBP2 Louise Daugherty reviewed gene: RANBP2
Intellectual disability RBBP8 Louise Daugherty classified RBBP8 as Amber List (moderate evidence)
Intellectual disability RNF125 Louise Daugherty classified RNF125 as Green List (high evidence)
Intellectual disability RNF125 Louise Daugherty commented on gene: RNF125
Intellectual disability SCN3A Louise Daugherty classified SCN3A as Green List (high evidence)
Intellectual disability SCN3A Louise Daugherty commented on gene: SCN3A
Intellectual disability SDCCAG8 Louise Daugherty classified SDCCAG8 as Green List (high evidence)
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Green List (high evidence)
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Green List (high evidence)
Intellectual disability ARV1 Louise Daugherty edited their review of gene: ARV1
Intellectual disability LYST Louise Daugherty edited their review of gene: LYST
Intellectual disability SETD1B Louise Daugherty edited their review of gene: SETD1B
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability NLRP3 Louise Daugherty reviewed gene: NLRP3
Intellectual disability LYST Louise Daugherty commented on gene: LYST
Intellectual disability LYST Louise Daugherty edited their review of gene: LYST
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Amber List (moderate evidence)
Intellectual disability ARV1 Louise Daugherty reviewed gene: ARV1
Intellectual disability SLC22A5 Louise Daugherty classified SLC22A5 as Red List (low evidence)
Intellectual disability SLC22A5 Louise Daugherty edited their review of gene: SLC22A5
Intellectual disability SLC25A20 Louise Daugherty classified SLC25A20 as Red List (low evidence)
Intellectual disability SLC25A20 Louise Daugherty edited their review of gene: SLC25A20
Intellectual disability TCF20 Louise Daugherty commented on gene: TCF20
Intellectual disability THAP1 Louise Daugherty classified THAP1 as Red List (low evidence)
Intellectual disability THAP1 Louise Daugherty commented on gene: THAP1
Intellectual disability TIMM8A Louise Daugherty classified TIMM8A as Red List (low evidence)
Intellectual disability TIMM8A Louise Daugherty edited their review of gene: TIMM8A
Intellectual disability LYST Sarah Leigh reviewed gene: LYST
Intellectual disability ARV1 Sarah Leigh reviewed gene: ARV1
Intellectual disability KCNQ3 Zornitza Stark reviewed gene: KCNQ3
Intellectual disability GNAI1 Zornitza Stark reviewed gene: GNAI1
Intellectual disability CNOT3 Zornitza Stark reviewed gene: CNOT3
Intellectual disability TRIM37 Louise Daugherty edited their review of gene: TRIM37
Intellectual disability TRIM37 Louise Daugherty classified TRIM37 as Red List (low evidence)
Intellectual disability VPS53 Louise Daugherty classified VPS53 as Green List (high evidence)
Intellectual disability SETD2 Louise Daugherty commented on gene: SETD2
Intellectual disability SETD2 Louise Daugherty classified SETD2 as Green List (high evidence)
Intellectual disability SETD2 Louise Daugherty commented on gene: SETD2
Intellectual disability SLC22A5 Louise Daugherty reviewed gene: SLC22A5
Intellectual disability SLC25A12 Louise Daugherty classified SLC25A12 as Amber List (moderate evidence)
Intellectual disability SLC25A20 Louise Daugherty reviewed gene: SLC25A20
Intellectual disability SLC35A1 Louise Daugherty edited their review of gene: SLC35A1
Intellectual disability SLC45A1 Louise Daugherty classified SLC45A1 as Amber List (moderate evidence)
Intellectual disability SPECC1L Louise Daugherty classified SPECC1L as Green List (high evidence)
Intellectual disability SPECC1L Louise Daugherty reviewed gene: SPECC1L
Intellectual disability SRPX2 Louise Daugherty classified SRPX2 as Red List (low evidence)
Intellectual disability SRPX2 Louise Daugherty edited their review of gene: SRPX2
Intellectual disability SSR4 Louise Daugherty classified SSR4 as Green List (high evidence)
Intellectual disability SSR4 Louise Daugherty commented on gene: SSR4
Intellectual disability SSR4 Louise Daugherty commented on gene: SSR4
Intellectual disability TAF6 Louise Daugherty classified TAF6 as Green List (high evidence)
Intellectual disability TBC1D23 Louise Daugherty classified TBC1D23 as Green List (high evidence)
Intellectual disability TBC1D23 Louise Daugherty commented on gene: TBC1D23
Intellectual disability TCF20 Louise Daugherty edited their review of gene: TCF20
Intellectual disability TCF20 Louise Daugherty commented on gene: TCF20
Intellectual disability TGDS Louise Daugherty classified TGDS as Red List (low evidence)
Intellectual disability TGDS Louise Daugherty classified TGDS as Red List (low evidence)
Intellectual disability TGDS Louise Daugherty edited their review of gene: TGDS
Intellectual disability THAP1 Louise Daugherty reviewed gene: THAP1
Intellectual disability TIMM8A Louise Daugherty reviewed gene: TIMM8A
Intellectual disability TNIK Louise Daugherty classified TNIK as Amber List (moderate evidence)
Intellectual disability TRAPPC6B Louise Daugherty classified TRAPPC6B as Amber List (moderate evidence)
Intellectual disability TRAPPC6B Louise Daugherty commented on gene: TRAPPC6B
Intellectual disability TRAPPC6A Louise Daugherty classified TRAPPC6A as Red List (low evidence)
Intellectual disability TRAPPC6A Louise Daugherty Added gene to panel
Intellectual disability TRIM37 Louise Daugherty classified TRIM37 as Amber List (moderate evidence)
Intellectual disability TRIM37 Louise Daugherty reviewed gene: TRIM37
Intellectual disability UNC13A Louise Daugherty classified UNC13A as Red List (low evidence)
Intellectual disability VPS53 Louise Daugherty classified VPS53 as Amber List (moderate evidence)
Intellectual disability VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability WDFY3 Louise Daugherty classified WDFY3 as Red List (low evidence)
Intellectual disability WDR26 Louise Daugherty classified WDR26 as Green List (high evidence)
Intellectual disability ZBTB24 Louise Daugherty classified ZBTB24 as Green List (high evidence)
Intellectual disability CACNA1G Louise Daugherty reviewed gene: CACNA1G
Intellectual disability STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Intellectual disability STRADA Louise Daugherty commented on gene: STRADA
Intellectual disability RTN4IP1 Louise Daugherty classified RTN4IP1 as Green List (high evidence)
Intellectual disability SLC35A1 Louise Daugherty commented on gene: SLC35A1
Intellectual disability SLC35A1 Louise Daugherty classified SLC35A1 as Amber List (moderate evidence)
Intellectual disability WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Intellectual disability CTGF Louise Daugherty commented on gene: CTGF
Intellectual disability CTGF Louise Daugherty Added gene to panel
Intellectual disability STX3 Louise Daugherty commented on gene: STX3
Intellectual disability STX3 Louise Daugherty Added gene to panel
Intellectual disability TSPAN8 Louise Daugherty commented on gene: TSPAN8
Intellectual disability TSPAN8 Louise Daugherty Added gene to panel
Intellectual disability ELK1 Louise Daugherty commented on gene: ELK1
Intellectual disability MACC1 Louise Daugherty commented on gene: MACC1
Intellectual disability MACC1 Louise Daugherty Added gene to panel
Intellectual disability GRIA2 Louise Daugherty classified GRIA2 as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain marked gene: OSGEP as ready
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain Added gene to panel
Intellectual disability ITCH Louise Daugherty classified ITCH as No list
Intellectual disability SMPD4 Arianna Tucci Added gene to panel
Intellectual disability SMPD4 Arianna Tucci Added gene to panel
Intellectual disability WASF1 Louise Daugherty classified WASF1 as Green List (high evidence)
Intellectual disability WASF1 Louise Daugherty Added gene to panel
Intellectual disability ASH1L Louise Daugherty classified ASH1L as Green List (high evidence)
Intellectual disability ZBTB24 Zornitza Stark Added gene to panel
Intellectual disability WDR26 Zornitza Stark Added gene to panel
Intellectual disability WDFY3 Zornitza Stark Added gene to panel
Intellectual disability VPS53 Zornitza Stark Added gene to panel
Intellectual disability UNC13A Zornitza Stark Added gene to panel
Intellectual disability TRAPPC6B Zornitza Stark Added gene to panel
Intellectual disability TNIK Zornitza Stark Added gene to panel
Intellectual disability TBC1D23 Zornitza Stark Added gene to panel
Intellectual disability TAF6 Zornitza Stark Added gene to panel
Intellectual disability SSR4 Zornitza Stark Added gene to panel
Intellectual disability SPECC1L Zornitza Stark Added gene to panel
Intellectual disability SLC25A12 Zornitza Stark Added gene to panel
Intellectual disability SETD2 Zornitza Stark Added gene to panel
Intellectual disability SETD1B Zornitza Stark Added gene to panel
Intellectual disability SCN3A Zornitza Stark Added gene to panel
Intellectual disability RNF125 Zornitza Stark Added gene to panel
Intellectual disability RBBP8 Zornitza Stark Added gene to panel
Intellectual disability PTPN23 Zornitza Stark Added gene to panel
Intellectual disability PPP3CA Zornitza Stark Added gene to panel
Intellectual disability PPP1R15B Zornitza Stark Added gene to panel
Intellectual disability PIGY Zornitza Stark Added gene to panel
Intellectual disability PIGW Zornitza Stark Added gene to panel
Intellectual disability PIGC Zornitza Stark Added gene to panel
Intellectual disability PCLO Zornitza Stark Added gene to panel
Intellectual disability PBX1 Zornitza Stark Added gene to panel
Intellectual disability NDUFAF5 Zornitza Stark Added gene to panel
Intellectual disability MTFMT Zornitza Stark Added gene to panel
Intellectual disability MEIS2 Zornitza Stark Added gene to panel
Intellectual disability KMT5B Zornitza Stark Added gene to panel
Intellectual disability KLHL7 Zornitza Stark Added gene to panel
Intellectual disability KIF14 Zornitza Stark Added gene to panel
Intellectual disability KCTD3 Zornitza Stark Added gene to panel
Intellectual disability ITPA Zornitza Stark Added gene to panel
Intellectual disability ISCA2 Zornitza Stark Added gene to panel
Intellectual disability INTS8 Zornitza Stark Added gene to panel
Intellectual disability INTS1 Zornitza Stark Added gene to panel
Intellectual disability HERC2 Zornitza Stark Added gene to panel
Intellectual disability HEPACAM Zornitza Stark Added gene to panel
Intellectual disability GTF3C3 Zornitza Stark Added gene to panel
Intellectual disability GRIA4 Zornitza Stark Added gene to panel
Intellectual disability GEMIN4 Zornitza Stark Added gene to panel
Intellectual disability FIBP Zornitza Stark Added gene to panel
Intellectual disability DPM2 Zornitza Stark Added gene to panel
Intellectual disability DOCK3 Zornitza Stark Added gene to panel
Intellectual disability CWC27 Zornitza Stark Added gene to panel
Intellectual disability CSNK2B Zornitza Stark Added gene to panel
Intellectual disability CNTN3 Zornitza Stark Added gene to panel
Intellectual disability CHKB Zornitza Stark Added gene to panel
Intellectual disability CDC42 Zornitza Stark Added gene to panel
Intellectual disability CCDC88A Zornitza Stark Added gene to panel
Intellectual disability AP1S1 Zornitza Stark Added gene to panel
Intellectual disability C12orf4 Zornitza Stark Added gene to panel
Intellectual disability BRF1 Zornitza Stark Added gene to panel
Intellectual disability BPTF Zornitza Stark Added gene to panel
Intellectual disability BCKDK Zornitza Stark Added gene to panel
Intellectual disability ARV1 Zornitza Stark Added gene to panel
Intellectual disability TRIM37 Zornitza Stark reviewed gene: TRIM37
Intellectual disability TIMM8A Zornitza Stark reviewed gene: TIMM8A
Intellectual disability THAP1 Zornitza Stark reviewed gene: THAP1
Intellectual disability TGDS Zornitza Stark reviewed gene: TGDS
Intellectual disability TCF20 Zornitza Stark reviewed gene: TCF20
Intellectual disability SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Intellectual disability SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Intellectual disability SLC25A20 Zornitza Stark reviewed gene: SLC25A20
Intellectual disability SLC22A5 Zornitza Stark reviewed gene: SLC22A5
Intellectual disability SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8
Intellectual disability RANBP2 Zornitza Stark reviewed gene: RANBP2
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Intellectual disability ARCN1 Zornitza Stark Added gene to panel
Intellectual disability QRICH1 Zornitza Stark reviewed gene: QRICH1
Intellectual disability PRRT2 Zornitza Stark reviewed gene: PRRT2
Intellectual disability PGM3 Zornitza Stark reviewed gene: PGM3
Intellectual disability PDGFRB Zornitza Stark reviewed gene: PDGFRB
Intellectual disability PCGF2 Zornitza Stark commented on gene: PCGF2
Intellectual disability PCGF2 Zornitza Stark reviewed gene: PCGF2
Intellectual disability ORC6 Zornitza Stark reviewed gene: ORC6
Intellectual disability ORC4 Zornitza Stark reviewed gene: ORC4
Intellectual disability NRXN2 Zornitza Stark reviewed gene: NRXN2
Intellectual disability NAA15 Zornitza Stark reviewed gene: NAA15
Intellectual disability MSL3 Zornitza Stark reviewed gene: MSL3
Intellectual disability KIF5A Zornitza Stark reviewed gene: KIF5A
Intellectual disability KCNQ5 Zornitza Stark reviewed gene: KCNQ5
Intellectual disability IGF1R Zornitza Stark reviewed gene: IGF1R
Intellectual disability HNRNPK Zornitza Stark reviewed gene: HNRNPK
Intellectual disability GSPT2 Zornitza Stark reviewed gene: GSPT2
Intellectual disability GBA Zornitza Stark reviewed gene: GBA
Intellectual disability FGFR1 Zornitza Stark reviewed gene: FGFR1
Intellectual disability EIF4A3 Zornitza Stark reviewed gene: EIF4A3
Intellectual disability EDNRB Zornitza Stark reviewed gene: EDNRB
Intellectual disability SRPX2 Andrew Douglas reviewed gene: SRPX2
Intellectual disability COQ5 Zornitza Stark reviewed gene: COQ5
Intellectual disability CISD2 Zornitza Stark reviewed gene: CISD2
Intellectual disability CDT1 Zornitza Stark reviewed gene: CDT1
Intellectual disability CDKN1C Zornitza Stark reviewed gene: CDKN1C
Intellectual disability CCDC8 Zornitza Stark reviewed gene: CCDC8
Intellectual disability CA2 Zornitza Stark reviewed gene: CA2
Intellectual disability ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2
Intellectual disability ATP1A3 Zornitza Stark reviewed gene: ATP1A3
Intellectual disability ATL1 Zornitza Stark reviewed gene: ATL1
Intellectual disability ASS1 Zornitza Stark reviewed gene: ASS1
Intellectual disability ASH1L Zornitza Stark reviewed gene: ASH1L
Intellectual disability APTX Zornitza Stark reviewed gene: APTX
Intellectual disability ALX4 Zornitza Stark reviewed gene: ALX4
Intellectual disability ALS2 Zornitza Stark reviewed gene: ALS2
Intellectual disability SPATA5 Louise Daugherty classified SPATA5 as Green List (high evidence)
Intellectual disability SPATA5 Rachel Jones classified SPATA5 as Green List (high evidence)
Intellectual disability SPATA5 Rachel Jones classified SPATA5 as Green List (high evidence)
Intellectual disability SPATA5 Rachel Jones reviewed gene: SPATA5
Intellectual disability SRPX2 Sarah Leigh classified SRPX2 as Amber List (moderate evidence)
Intellectual disability SRPX2 Sarah Leigh classified SRPX2 as Amber List (moderate evidence)
Intellectual disability SRPX2 Sarah Leigh classified SRPX2 as Amber List (moderate evidence)
Intellectual disability C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability FMR1 Ellen McDonagh commented on STR: FMR1_CGG
Intellectual disability FMR1 Ellen McDonagh commented on STR: FMR1_CGG
Intellectual disability CSTB Ellen McDonagh commented on STR: CSTB_CCCCGCCCCGCG
Intellectual disability ATXN7 Ellen McDonagh commented on STR: ATXN7_CAG
Intellectual disability PPP2R2B Ellen McDonagh commented on STR: PPP2R2B_CAG
Intellectual disability C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability FMR1 Arianna Tucci classified FMR1 as Green List (high evidence)
Intellectual disability TLK2 Ellen McDonagh classified TLK2 as Green List (high evidence)
Intellectual disability PPP2R2B Ellen McDonagh Added STR to panel
Intellectual disability DMPK Ellen McDonagh Added STR to panel
Intellectual disability C9orf72 Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
Intellectual disability C9orf72 Ellen McDonagh Added STR to panel
Intellectual disability ATXN7 Ellen McDonagh Added STR to panel
Intellectual disability ATXN3 Ellen McDonagh Added STR to panel
Intellectual disability ATXN2 Ellen McDonagh Added STR to panel
Intellectual disability ATXN10 Ellen McDonagh Added STR to panel
Intellectual disability ATXN1 Ellen McDonagh Added STR to panel
Intellectual disability FXN Ellen McDonagh Added STR to panel
Intellectual disability C2orf71 Louise Daugherty commented on gene: C2orf71
Intellectual disability FMR1 Ellen McDonagh Added STR to panel
Intellectual disability CSTB Ellen McDonagh Added STR to panel
Intellectual disability CSTB Ellen McDonagh Added STR to panel
Intellectual disability MTOR Louise Daugherty classified MTOR as Green List (high evidence)
Intellectual disability SRPX2 Sarah Leigh reviewed SRPX2
Intellectual disability OTC Ellen McDonagh commented on OTC
Intellectual disability DMD Ellen McDonagh commented on DMD
Intellectual disability ATP2A2 Ellen McDonagh commented on ATP2A2
Intellectual disability ADA Ellen McDonagh commented on ADA
Intellectual disability ABCD1 Ellen McDonagh commented on ABCD1
Intellectual disability YWHAG Louise Daugherty classified YWHAG as Green List (high evidence)
Intellectual disability RAB11B Louise Daugherty classified RAB11B as Green List (high evidence)
Intellectual disability RAB11B Louise Daugherty commented on RAB11B
Intellectual disability YWHAG Louise Daugherty Added gene to panel
Intellectual disability OCLN Louise Daugherty commented on OCLN
Intellectual disability HMGCL Louise Daugherty classified HMGCL as Green List (high evidence)
Intellectual disability SOX9 Louise Daugherty classified SOX9 as Green List (high evidence)
Intellectual disability SOX9 Louise Daugherty classified SOX9 as Green List (high evidence)
Intellectual disability SOX9 Rachel Jones reviewed SOX9
Intellectual disability NAA15 Louise Daugherty classified NAA15 as Amber List (moderate evidence)
Intellectual disability NAA15 Louise Daugherty Added gene to panel
Intellectual disability DVL3 Sarah Leigh classified DVL3 as Red List (low evidence)
Intellectual disability WDR4 Ellen McDonagh commented on WDR4
Intellectual disability WDR4 Ellen McDonagh edited their review of WDR4
Intellectual disability WDR4 Ellen McDonagh Added gene to panel
Intellectual disability GLRA1 Ellen McDonagh Added gene to panel
Intellectual disability PIGH Ellen McDonagh Added gene to panel
Intellectual disability TMEM5 Louise Daugherty commented on TMEM5
Intellectual disability C5orf42 Louise Daugherty commented on C5orf42
Intellectual disability C5orf42 Louise Daugherty commented on C5orf42
Intellectual disability MVK Sarah Leigh classified MVK as Green List (high evidence)
Intellectual disability Ellen McDonagh promoted panel to version 2.0
Intellectual disability NHP2 Ellen McDonagh Added gene to panel
Intellectual disability NEB Ellen McDonagh Added gene to panel
Intellectual disability NDUFAF3 Ellen McDonagh Added gene to panel
Intellectual disability NDUFA9 Ellen McDonagh Added gene to panel
Intellectual disability NDUFA10 Ellen McDonagh Added gene to panel
Intellectual disability NADK2 Ellen McDonagh Added gene to panel
Intellectual disability MYH10 Ellen McDonagh Added gene to panel
Intellectual disability MTTP Ellen McDonagh Added gene to panel
Intellectual disability MTMR14 Ellen McDonagh Added gene to panel
Intellectual disability CLCNKA Ellen McDonagh Added gene to panel
Intellectual disability HIST1H4C Ellen McDonagh Added gene to panel
Intellectual disability NT5C2 Ellen McDonagh classified NT5C2 as Green List (high evidence)
Intellectual disability NONO Ellen McDonagh classified NONO as Green List (high evidence)
Intellectual disability MBOAT7 Ellen McDonagh Added gene to panel
Intellectual disability KIAA1109 Ellen McDonagh Added gene to panel
Intellectual disability CLTC Ellen McDonagh Added gene to panel
Intellectual disability CDH11 Ellen McDonagh Added gene to panel
Intellectual disability RUBCN Olivia Niblock edited their review of RUBCN
Intellectual disability NOP56 Louise Daugherty commented on NOP56
Intellectual disability NIPA1 Louise Daugherty commented on NIPA1
Intellectual disability NHLRC1 Louise Daugherty commented on NHLRC1
Intellectual disability NEFL Louise Daugherty commented on NEFL
Intellectual disability NDRG1 Louise Daugherty commented on NDRG1
Intellectual disability NDN Sarah Leigh edited their review of NDN
Intellectual disability MTMR2 Louise Daugherty commented on MTMR2
Intellectual disability MT-ND1 Louise Daugherty commented on MT-ND1
Intellectual disability MRE11 Louise Daugherty commented on MRE11
Intellectual disability NT5C2 Louise Daugherty commented on NT5C2
Intellectual disability NONO Louise Daugherty commented on NONO
Intellectual disability LARGE1 Louise Daugherty commented on LARGE1
Intellectual disability KMT2C Eleanor Williams commented on KMT2C
Intellectual disability AKAP6 Louise Daugherty edited their review of AKAP6
Intellectual disability AKAP6 Louise Daugherty Added gene to panel
Intellectual disability MYBPC1 Sarah Leigh classified MYBPC1 as Red List (low evidence)
Intellectual disability SETD1A Louise Daugherty edited their review of SETD1A
Intellectual disability SETD1A Louise Daugherty classified SETD1A as Amber List (moderate evidence)
Intellectual disability SETD1A Louise Daugherty classified SETD1A as Amber List (moderate evidence)
Intellectual disability MYT1L Louise Daugherty classified MYT1L as Green List (high evidence)
Intellectual disability MYT1L alisdair mcneill reviewed MYT1L
Intellectual disability SETD1A David Curtis reviewed SETD1A
Intellectual disability GRIN1 Louise Daugherty edited their review of GRIN1
Intellectual disability GRIN1 Louise Daugherty classified GRIN1 as Green List (high evidence)
Intellectual disability A2ML1 Louise Daugherty edited their review of A2ML1
Intellectual disability A2ML1 Louise Daugherty classified A2ML1 as Red List (low evidence)
Intellectual disability A2ML1 Louise Daugherty classified A2ML1 as Red List (low evidence)
Intellectual disability PIK3CA Louise Daugherty edited their review of PIK3CA
Intellectual disability AMER1 Helen Brittain edited their review of AMER1
Intellectual disability SHOX Louise Daugherty reviewed SHOX
Intellectual disability SHOX Louise Daugherty commented on SHOX
Intellectual disability WNT5A Ellen McDonagh classified WNT5A as Red List (low evidence)
Intellectual disability VDR Ellen McDonagh classified VDR as Red List (low evidence)
Intellectual disability TCOF1 Ellen McDonagh classified TCOF1 as Red List (low evidence)
Intellectual disability SMARCAL1 Ellen McDonagh classified SMARCAL1 as Red List (low evidence)
Intellectual disability SLC2A10 Ellen McDonagh classified SLC2A10 as Red List (low evidence)
Intellectual disability SF3B4 Ellen McDonagh classified SF3B4 as Red List (low evidence)
Intellectual disability SALL1 Ellen McDonagh classified SALL1 as Amber List (moderate evidence)
Intellectual disability RYR1 Ellen McDonagh classified RYR1 as Red List (low evidence)
Intellectual disability RET Ellen McDonagh classified RET as Red List (low evidence)
Intellectual disability RECQL4 Ellen McDonagh classified RECQL4 as Red List (low evidence)
Intellectual disability RBM8A Ellen McDonagh classified RBM8A as Red List (low evidence)
Intellectual disability PIEZO2 Ellen McDonagh classified PIEZO2 as Red List (low evidence)
Intellectual disability PRKAR1A Ellen McDonagh classified PRKAR1A as Red List (low evidence)
Intellectual disability PAX2 Ellen McDonagh classified PAX2 as Red List (low evidence)
Intellectual disability P3H1 Ellen McDonagh classified P3H1 as Red List (low evidence)
Intellectual disability MYH3 Ellen McDonagh classified MYH3 as Red List (low evidence)
Intellectual disability MYO7A Ellen McDonagh classified MYO7A as Red List (low evidence)
Intellectual disability MPV17 Ellen McDonagh classified MPV17 as Red List (low evidence)
Intellectual disability MEGF8 Ellen McDonagh classified MEGF8 as Red List (low evidence)
Intellectual disability MEGF10 Ellen McDonagh classified MEGF10 as Red List (low evidence)
Intellectual disability LYST Ellen McDonagh classified LYST as Red List (low evidence)
Intellectual disability GLUD1 Ellen McDonagh classified GLUD1 as Red List (low evidence)
Intellectual disability GABBR2 Ellen McDonagh classified GABBR2 as Amber List (moderate evidence)
Intellectual disability FTO Ellen McDonagh classified FTO as Amber List (moderate evidence)
Intellectual disability FTL Ellen McDonagh classified FTL as Amber List (moderate evidence)
Intellectual disability EGR2 Ellen McDonagh classified EGR2 as Red List (low evidence)
Intellectual disability FGD4 Ellen McDonagh classified FGD4 as Red List (low evidence)
Intellectual disability FBXO7 Ellen McDonagh classified FBXO7 as Red List (low evidence)
Intellectual disability FBN2 Ellen McDonagh classified FBN2 as Red List (low evidence)
Intellectual disability EXT1 Ellen McDonagh classified EXT1 as Red List (low evidence)
Intellectual disability EFNB1 Ellen McDonagh classified EFNB1 as Red List (low evidence)
Intellectual disability DDR2 Ellen McDonagh classified DDR2 as Red List (low evidence)
Intellectual disability COL6A3 Ellen McDonagh classified COL6A3 as Red List (low evidence)
Intellectual disability COL11A2 Ellen McDonagh classified COL11A2 as Red List (low evidence)
Intellectual disability BRIP1 Ellen McDonagh classified BRIP1 as Red List (low evidence)
Intellectual disability BIN1 Ellen McDonagh classified BIN1 as Red List (low evidence)
Intellectual disability AGK Ellen McDonagh classified AGK as Red List (low evidence)
Intellectual disability PLOD1 Ellen McDonagh classified PLOD1 as Red List (low evidence)
Intellectual disability SETD1A Ellen McDonagh Added gene to panel
Intellectual disability RAB11B Ellen McDonagh Added gene to panel
Intellectual disability HMGB3 Ellen McDonagh Added gene to panel
Intellectual disability FKBP6 Ellen McDonagh Added gene to panel
Intellectual disability FBXO8 Ellen McDonagh Added gene to panel
Intellectual disability CDK19 Ellen McDonagh Added gene to panel
Intellectual disability RBPJ Ellen McDonagh Added gene to panel
Intellectual disability FBXW4 Ellen McDonagh Added gene to panel
Intellectual disability CARS2 Ellen McDonagh Added gene to panel
Intellectual disability SLC20A2 Louise Daugherty commented on SLC20A2
Intellectual disability SIGMAR1 Louise Daugherty commented on SIGMAR1
Intellectual disability SH3TC2 Louise Daugherty commented on SH3TC2
Intellectual disability SGCE Louise Daugherty commented on SGCE
Intellectual disability SETX Louise Daugherty commented on SETX
Intellectual disability SCN9A Louise Daugherty commented on SCN9A
Intellectual disability SCARB2 Louise Daugherty commented on SCARB2
Intellectual disability SBF2 Louise Daugherty commented on SBF2
Intellectual disability SALL1 Louise Daugherty commented on SALL1
Intellectual disability SACS Louise Daugherty commented on SACS
Intellectual disability RTTN Louise Daugherty commented on RTTN
Intellectual disability RTN2 Louise Daugherty commented on RTN2
Intellectual disability RNF216 Louise Daugherty commented on RNF216
Intellectual disability RLIM Louise Daugherty commented on RLIM
Intellectual disability REEP2 Louise Daugherty commented on REEP2
Intellectual disability REEP1 Louise Daugherty commented on REEP1
Intellectual disability PHC1 Louise Daugherty commented on PHC1
Intellectual disability HTT Louise Daugherty commented on HTT
Intellectual disability WASHC5 Olivia Niblock classified WASHC5 as Amber List (moderate evidence)
Intellectual disability WASHC5 Olivia Niblock commented on WASHC5
Intellectual disability CAMK2B Sarah Leigh Added gene to panel
Intellectual disability RRM2B Sarah Leigh Added gene to panel
Intellectual disability KIDINS220 Sarah Leigh Added gene to panel
Intellectual disability IARS Sarah Leigh Added gene to panel
Intellectual disability HNRNPH2 Sarah Leigh Added gene to panel
Intellectual disability PIK3CA Louise Daugherty edited their review of PIK3CA
Intellectual disability DECR1 Ellen McDonagh classified DECR1 as Red List (low evidence)
Intellectual disability LRP2 Helen Brittain reviewed LRP2
Intellectual disability LRP2 Helen Brittain reviewed LRP2
Intellectual disability PCDH12 Ellen McDonagh edited their review of PCDH12
Intellectual disability PCDH12 Ellen McDonagh Added gene to panel
Intellectual disability HIST1H1E Ellen McDonagh marked HIST1H1E as ready
Intellectual disability A2ML1 Tord Jonson Added gene to panel
Intellectual disability AARS Tord Jonson reviewed AARS
Intellectual disability OR5M1 Louise Daugherty edited their review of OR5M1
Intellectual disability MIB1 Ellen McDonagh marked MIB1 as ready
Intellectual disability MIB1 Ellen McDonagh reviewed MIB1
Intellectual disability SHOX Louise Daugherty commented on SHOX
Intellectual disability PET100 Louise Daugherty commented on PET100
Intellectual disability RLIM Louise Daugherty commented on RLIM
Intellectual disability PHC1 Louise Daugherty commented on PHC1
Intellectual disability PCDH19 Louise Daugherty edited their review of PCDH19
Intellectual disability KCNK9 Ellen McDonagh classified KCNK9 as Green List (high evidence)
Intellectual disability TTN Ellen McDonagh Added gene to panel
Intellectual disability TLK2 Ellen McDonagh Added gene to panel
Intellectual disability PLOD3 Ellen McDonagh Added gene to panel
Intellectual disability ITCH Ellen McDonagh Added gene to panel
Intellectual disability ARHGAP31 Ellen McDonagh Added gene to panel
Intellectual disability UPB1 Ellen McDonagh marked UPB1 as ready
Intellectual disability UPB1 Ellen McDonagh classified UPB1 as Amber List (moderate evidence)
Intellectual disability ARL14EP Ellen McDonagh marked ARL14EP as ready
Intellectual disability ALX4 Ellen McDonagh marked ALX4 as ready
Intellectual disability ALX4 Ellen McDonagh classified ALX4 as Amber List (moderate evidence)
Intellectual disability AKT1 Ellen McDonagh marked AKT1 as ready
Intellectual disability AKT1 Ellen McDonagh classified AKT1 as Amber List (moderate evidence)
Intellectual disability ADCY5 Ellen McDonagh marked ADCY5 as ready
Intellectual disability ACVR1 Ellen McDonagh marked ACVR1 as ready
Intellectual disability ACVR1 Ellen McDonagh marked ACVR1 as ready
Intellectual disability ACVR1 Ellen McDonagh classified ACVR1 as Amber List (moderate evidence)
Intellectual disability DOCK6 Ellen McDonagh Added gene to panel
Intellectual disability DENND5A Ellen McDonagh Added gene to panel
Intellectual disability TRIT1 Ellen McDonagh Added gene to panel
Intellectual disability TMTC3 Ellen McDonagh Added gene to panel
Intellectual disability THOC6 Ellen McDonagh Added gene to panel
Intellectual disability SLC6A9 Ellen McDonagh Added gene to panel
Intellectual disability RAC1 Ellen McDonagh Added gene to panel
Intellectual disability PLPBP Ellen McDonagh Added gene to panel
Intellectual disability EML1 Ellen McDonagh Added gene to panel
Intellectual disability ASXL2 Ellen McDonagh Added gene to panel
Intellectual disability AP3B2 Ellen McDonagh Added gene to panel
Intellectual disability PSEN1 Louise Daugherty commented on PSEN1
Intellectual disability PRX Louise Daugherty commented on PRX
Intellectual disability PRKRA Louise Daugherty commented on PRKRA
Intellectual disability PRKCG Louise Daugherty commented on PRKCG
Intellectual disability PRICKLE2 Louise Daugherty commented on PRICKLE2
Intellectual disability PRICKLE1 Louise Daugherty commented on PRICKLE1
Intellectual disability PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability PNKD Louise Daugherty commented on PNKD
Intellectual disability PMP22 Louise Daugherty commented on PMP22
Intellectual disability PLEC Louise Daugherty commented on PLEC
Intellectual disability PINK1 Louise Daugherty commented on PINK1
Intellectual disability PDYN Louise Daugherty commented on PDYN
Intellectual disability PDGFB Louise Daugherty commented on PDGFB
Intellectual disability PARK7 Louise Daugherty commented on PARK7
Intellectual disability PRKN Louise Daugherty commented on PRKN
Intellectual disability SET Louise Daugherty commented on SET
Intellectual disability PNPO Louise Daugherty commented on PNPO
Intellectual disability PNPLA6 Louise Daugherty commented on PNPLA6
Intellectual disability OPA3 Louise Daugherty commented on OPA3
Intellectual disability SIN3A Louise Daugherty commented on SIN3A
Intellectual disability PSMD12 Louise Daugherty commented on PSMD12
Intellectual disability PRUNE1 Louise Daugherty commented on PRUNE1
Intellectual disability PLAA Louise Daugherty commented on PLAA
Intellectual disability PGAP1 Louise Daugherty commented on PGAP1
Intellectual disability TM4SF20 Rebecca Foulger commented on TM4SF20
Intellectual disability ZNF335 Rebecca Foulger commented on ZNF335
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability TRMT1 Rebecca Foulger commented on TRMT1
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPART Rebecca Foulger commented on SPART
Intellectual disability DMXL2 Ellen McDonagh commented on DMXL2
Intellectual disability CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Intellectual disability CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Intellectual disability RHEB Rebecca Foulger classified RHEB as amber
Intellectual disability RHEB Rebecca Foulger commented on RHEB
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability TRMT1 Rebecca Foulger commented on TRMT1
Intellectual disability TM4SF20 Rebecca Foulger commented on TM4SF20
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability FAM58A Louise Daugherty edited their review of FAM58A
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SMARCA1 Louise Daugherty commented on SMARCA1
Intellectual disability TAF13 Ellen McDonagh classified TAF13 as amber
Intellectual disability TAF13 Ellen McDonagh added TAF13 to panel
Intellectual disability TAF13 Ellen McDonagh reviewed TAF13
Intellectual disability STT3A Rebecca Foulger commented on STT3A
Intellectual disability MTOR Ellen McDonagh classified MTOR as amber
Intellectual disability MTOR Ellen McDonagh commented on MTOR
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability HTT Ellen McDonagh marked HTT as ready
Intellectual disability HTT Ellen McDonagh edited their review of HTT
Intellectual disability HTT Ellen McDonagh commented on HTT
Intellectual disability RPS23 Ellen McDonagh classified RPS23 as amber
Intellectual disability RPS23 Ellen McDonagh added RPS23 to panel
Intellectual disability RPS23 Ellen McDonagh reviewed RPS23
Intellectual disability EXTL3 Ellen McDonagh classified EXTL3 as green
Intellectual disability EXTL3 Ellen McDonagh commented on EXTL3
Intellectual disability TRIP13 Sarah Leigh added TRIP13 to panel
Intellectual disability TRIP13 Sarah Leigh reviewed TRIP13
Intellectual disability SGPL1 Sarah Leigh classified SGPL1 as green
Intellectual disability SGPL1 Sarah Leigh added SGPL1 to panel
Intellectual disability SGPL1 Sarah Leigh reviewed SGPL1
Intellectual disability EED Sarah Leigh classified EED as green
Intellectual disability EED Sarah Leigh added EED to panel
Intellectual disability EED Sarah Leigh reviewed EED
Intellectual disability HIST1H1E Rebecca Foulger classified HIST1H1E as green
Intellectual disability HIST1H1E Rebecca Foulger commented on HIST1H1E
Intellectual disability HIST1H1E Rebecca Foulger added HIST1H1E to panel
Intellectual disability HIST1H1E Rebecca Foulger reviewed HIST1H1E
Intellectual disability MT-TP Louise Daugherty commented on MT-TP
Intellectual disability INPP5E Louise Daugherty commented on INPP5E
Intellectual disability SLC30A9 Sarah Leigh added SLC30A9 to panel
Intellectual disability SLC30A9 Sarah Leigh reviewed SLC30A9
Intellectual disability HTRA2 Sarah Leigh classified HTRA2 as green
Intellectual disability HTRA2 Sarah Leigh added HTRA2 to panel
Intellectual disability HTRA2 Sarah Leigh reviewed HTRA2
Intellectual disability DCC Sarah Leigh reviewed DCC
Intellectual disability OGT Rebecca Foulger classified OGT as green
Intellectual disability ROBO3 Sarah Leigh reviewed ROBO3
Intellectual disability C4orf26 Louise Daugherty edited their review of C4orf26
Intellectual disability SLC45A1 Rebecca Foulger commented on SLC45A1
Intellectual disability SLC45A1 Rebecca Foulger commented on SLC45A1
Intellectual disability SLC45A1 Rebecca Foulger added SLC45A1 to panel
Intellectual disability SLC45A1 Rebecca Foulger reviewed SLC45A1
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh reviewed RPL10
Intellectual disability SLC39A14 Sarah Leigh classified SLC39A14 as green
Intellectual disability YY1 Sarah Leigh edited their review of YY1
Intellectual disability YY1 Sarah Leigh edited their review of YY1
Intellectual disability MEF2C Louise Daugherty edited their review of MEF2C
Intellectual disability MEF2C Louise Daugherty commented on MEF2C
Intellectual disability OTUD6B Louise Daugherty classified OTUD6B as green
Intellectual disability OTUD6B Louise Daugherty edited their review of OTUD6B
Intellectual disability PPM1D Louise Daugherty edited their review of PPM1D
Intellectual disability PPM1D Louise Daugherty commented on PPM1D
Intellectual disability LGI4 Louise Daugherty classified LGI4 as green
Intellectual disability LGI4 Louise Daugherty edited their review of LGI4
Intellectual disability OGT Rebecca Foulger commented on OGT
Intellectual disability OGT Rebecca Foulger commented on OGT
Intellectual disability PLAA Rebecca Foulger classified PLAA as green
Intellectual disability PLAA Rebecca Foulger commented on PLAA
Intellectual disability PLAA Rebecca Foulger edited their review of PLAA
Intellectual disability PLAA Rebecca Foulger commented on PLAA
Intellectual disability ARHGEF2 Rebecca Foulger classified ARHGEF2 as red
Intellectual disability ARHGEF2 Rebecca Foulger added ARHGEF2 to panel
Intellectual disability ARHGEF2 Rebecca Foulger reviewed ARHGEF2
Intellectual disability DACT1 Louise Daugherty added DACT1 to panel
Intellectual disability DACT1 Louise Daugherty reviewed DACT1
Intellectual disability ITGB6 Rebecca Foulger added ITGB6 to panel
Intellectual disability ITGB6 Rebecca Foulger reviewed ITGB6
Intellectual disability KCNQ5 Olivia Niblock added KCNQ5 to panel
Intellectual disability KCNQ5 Olivia Niblock reviewed KCNQ5
Intellectual disability YY1 Sarah Leigh commented on YY1
Intellectual disability GNAO1 Rebecca Foulger commented on GNAO1
Intellectual disability PSMD12 Rebecca Foulger classified PSMD12 as green
Intellectual disability PSMD12 Rebecca Foulger commented on PSMD12
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger commented on PPP1CB
Intellectual disability RNU4ATAC Louise Daugherty edited their review of RNU4ATAC
Intellectual disability ZNF711 BRIDGE consortium edited their review of ZNF711
Intellectual disability ZNF148 BRIDGE consortium edited their review of ZNF148
Intellectual disability ZMPSTE24 BRIDGE consortium edited their review of ZMPSTE24
Intellectual disability ZIC3 BRIDGE consortium edited their review of ZIC3
Intellectual disability ZIC2 BRIDGE consortium edited their review of ZIC2
Intellectual disability ZIC1 BRIDGE consortium edited their review of ZIC1
Intellectual disability ZFYVE26 BRIDGE consortium edited their review of ZFYVE26