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Intellectual disability syndromic and non-syndromic v0.5878 SLC19A3 Jane Lin reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15871139, PMID: 34276785, PMID: 23482991, PMID: 20065143; Phenotypes: # 607483 BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE (BBTGD), THIAMINE METABOLISM DYSFUNCTION SYNDROME 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5627 DDX17 Melanie Marty gene: DDX17 was added
gene: DDX17 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to https://www.medrxiv.org/search/DDX17
Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder (MONDO#0700092), DDX17-related
Review for gene: DDX17 was set to GREEN
Added comment: https://www.medrxiv.org/search/DDX17 (pre-print)
11 patients with het de novo variants in DDX17 (5 NMD, 6 missense). Patient's phenotype included mild-moderate intellectual disability, delayed speech and language development and global developmental delay. 64% had dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder.

Knockdown of Ddx17 in newborn mice showed impaired axon outgrowth and reduced axon outgrowth and branching was observed in primary cortical neurons in vitro. This result was replicated in Crispant Xenopus tadpoles, which had clear functional neural defects and showed an impaired neurobehavioral phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5179 ATG4D Zornitza Stark Marked gene: ATG4D as ready
Intellectual disability syndromic and non-syndromic v0.5179 ATG4D Zornitza Stark Gene: atg4d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5179 ATG4D Zornitza Stark Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder; Abnormal facial shape to Neurodevelopmental disorder, MONDO:0700092, ATG4D-related
Intellectual disability syndromic and non-syndromic v0.5178 ATG4D Zornitza Stark Classified gene: ATG4D as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5178 ATG4D Zornitza Stark Gene: atg4d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5177 ATG4D Zornitza Stark reviewed gene: ATG4D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ATG4D-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5177 ATG4D Suliman Khan gene: ATG4D was added
gene: ATG4D was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG4D were set to PMID: 36765070
Phenotypes for gene: ATG4D were set to neurodevelopmental disorder; Abnormal facial shape
Penetrance for gene: ATG4D were set to unknown
Review for gene: ATG4D was set to GREEN
Added comment: PMID: 36765070 reported three individuals from two unrelated families with a neurodevelopmental disorder characterized by speech and motor impairment with a similar facial gestalt comprising almond-shaped eyes, depressed nasal bridge, and a prominent Cupid’s bow with variable disease severity and progression. NGS analysis revealed bi-allelic loss-of-function variants in ATG4D gene. Based on the clinical, bioinformatic, and functional data, the author concluded that bi-allelic loss-of-function variants in ATG4D contribute to the pathogenesis of syndromic neurodevelopmental disorder.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM#614583
Intellectual disability syndromic and non-syndromic v0.4892 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4891 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM#614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4058 ARF3 Konstantinos Varvagiannis gene: ARF3 was added
gene: ARF3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF3 were set to 34346499
Phenotypes for gene: ARF3 were set to Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Penetrance for gene: ARF3 were set to unknown
Added comment: Sakamoto et al (2021 - PMID: 34346499) provide some evidence that monoallelic ARF3 pathogenic variants may be associated with a NDD with brain abnormality.

Using trio exome sequencing, the authors identified 2 individuals with NDD harboring de novo ARF3 variants, namely: NM_001659.2:c.200A>T / p.Asp67Val and c.296G>T / p.Arg99Leu.

Individual 1 (with Asp67Val / age : 4y10m), appeared to be more severelely affected with prenatal onset progressive microcephaly, severe global DD, epilepsy. Upon MRI there was cerebellar and brainstem atrophy. Individual 2 (Arg99Leu / 14y) had severe DD and ID (IQ of 23), epilepsy and upon MRI cerebellar hypoplasia. This subject did not exhibit microcephaly. Common facial features incl. broad nose, full cheeks, small philtrum, strabismus, thin upper lips and abnormal jaw. There was no evidence of systemic involvement in both.

ARF3 encodes ADP-ribosylation factor 3. Adenosine diphosphate ribosylation factors (ARFs) are key proteins for regulation of cargo sorting at the Golgi network, with ARF3 mainly working at the trans-Golgi network. ARFs belong to the small GTP-binding protein (G protein) superfamily. ARF3 switches between an active GTP-bound form and an inactive GDP-bound form, regulated by guanine nucleotide exchange factors (GEFs) and GTPase activating proteins (GAPs) respectively.

Members of the ARF superfamily regulate various aspects of membrane traffic, among others in neurons.

There are 5 homologs of ARF families, divided in 3 classes. ARF3 and ARF1 belong to class I. Monoallelic ARF1 mutations are associated with Periventricular nodular heterotopia 8 (MIM 618185).

In vivo, in vitro and in silico studies for the 2 variants suggest that both impair the Golgi transport system although each variant most likely exerts a different effect (gain-of-function for Arg99Leu vs loss-of-function/dominant-negative for Asp67Val).

This was also reflected in somewhat different phenotype of the subjects with the respective variants. Common features included severe DD, epilepsy and brain abnormalities although Asp67Val was associated with diffuse brain atrophy as well as congenital microcephaly and Arg99Leu with cerebellar hypoplasia.

Evidence to support the effect of each variant include:

Arg99Leu:
Had identical Golgi localization to that of wt
Had increased binding activity with GGA1, a protein recruited by the GTP-bound active form of ARF3 to the TGN membrane (supporting GoF)
In silico structural analysis suggested it may fail to stabilize the conformation of Asp26, resulting in impaired GTP hydrolysis (GoF).
In transgenic fruit flies, evaluation of the ARF3 variant toxicity using the rough eye phenotype this variant was associated with increased severity of the r-e phenotype similar to a previously studied GoF variant (Gln71Leu)

Asp67Val:
Did not show a Golgi-like pattern of localization (similar to Thr31Asn a previously studied dominant-negative variant)
Displayed decreased protein stability
In silico structural analysis suggested that Asp67Val may lead to compromised binding of GTP or GDP (suggestive of LoF)
In transgenic Drosophila eye-specific expression of Asp67Val (similar to Thr31Asn, a known dominant-negative variant) was lethal possibly due to high toxicity in very small amounts in tissues outside the eye.

There is no associated phenotype in OMIM, G2P or SysID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3977 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3746 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Intellectual disability syndromic and non-syndromic v0.3704 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Intellectual disability syndromic and non-syndromic v0.3703 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3702 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Intellectual disability syndromic and non-syndromic v0.3611 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Intellectual disability syndromic and non-syndromic v0.3610 GNPTG Zornitza Stark Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3609 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3543 DM1 Bryony Thompson STR: DM1 was added
STR: DM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Review for STR: DM1 was set to GREEN
STR: DM1 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3062 ITFG2 Konstantinos Varvagiannis gene: ITFG2 was added
gene: ITFG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ITFG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITFG2 were set to 28397838; https://doi.org/10.1038/s41525-020-00150-z
Phenotypes for gene: ITFG2 were set to Neurodevelopmental abnormality; Intellectual disability; Developmental regression; Ataxia
Penetrance for gene: ITFG2 were set to Complete
Review for gene: ITFG2 was set to AMBER
Added comment: ITFG2 was suggested to be a candidate gene for autosomal recessive ID in the study by Harripaul et al (2018 - PMID: 28397838). The authors performed microarray and exome sequencing in 192 consanguineous families and identified a homozygous ITGF2 stopgain variant (NM_018463.3:c.472G>T / p.Glu158*) along with 3 additional variants segregating with ID within an investigated family (PK51).

Cheema et al (2020 - https://doi.org/10.1038/s41525-020-00150-z) report briefly on a male, born to consanguineous parents presenting with NDD, seizures, regression and ataxia. There was a similarly affected female sibling. Evaluation of ROH revealed a homozygous ITFG2 nonsense variant [NM_018463.3:c.361C>T / p.(Gln121*)]. Families in this study were investigated by trio WES or WGS.

Evaluation of data of the same lab revealed 3 additional unrelated subjects with overlapping phenotypes, notably NDD and ataxia. These individuals were - each - homozygous for pLoF variants [NM_018463.3:c.848-1G>A; NM_018463.3:c.704dupC, p.(Ala236fs), NM_018463.3:c.1000_1001delAT, p.(Ile334fs)].

As discussed in OMIM, ITFG2 encodes a subunit of the KICSTOR protein complex, having a role in regulating nutrient sensing by MTOR complex-1 (Wolfson et al 2017 - PMID : 28199306).

Please consider inclusion in the ID panel with amber rating, pending further details.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2293 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2293 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2292 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Intellectual disability syndromic and non-syndromic v0.2053 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Intellectual disability syndromic and non-syndromic v0.2052 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Classified gene: ITGA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Marked gene: TG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1137 TG Chirag Patel Classified gene: TG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1137 TG Chirag Patel Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1136 TG Chirag Patel Source Genetic Health Queensland was removed from TG.
Source Expert list was added to TG.
Mode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3; OMIM #274700
Intellectual disability syndromic and non-syndromic v0.1135 TG Chirag Patel reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1135 TGFBR1 Chirag Patel Classified gene: TGFBR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1135 TGFBR1 Chirag Patel Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1134 TGFBR1 Chirag Patel Source Genetic Health Queensland was removed from TGFBR1.
Source Expert list was added to TGFBR1.
Mode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1; OMIM #609192
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR1 Chirag Patel reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR2 Chirag Patel Classified gene: TGFBR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR2 Chirag Patel Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1132 TGFBR2 Chirag Patel Source Genetic Health Queensland was removed from TGFBR2.
Source Expert list was added to TGFBR2.
Mode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2; OMIM #610168
Intellectual disability syndromic and non-syndromic v0.1131 TGFBR2 Chirag Patel reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGIF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGFBR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TGFBR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITGA7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: GNPTG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ACTG1 was set to Unknown