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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