Holoprosencephaly and septo-optic dysplasia
Gene: ARID1AEnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 13 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England)
Clefting is a minor feature on patients with monoallelic variants in ARID1A gene. This gene should therefore be added to 'clefting disorders' panel with amber rating although there are three cases reported (from a total of 34 cases).
PMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate.
DECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate.Created: 23 Jun 2023, 10:20 a.m. | Last Modified: 23 Jun 2023, 10:20 a.m.
Panel Version: 1.946
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Need additional reports to be sure if this is part of the spectrum.Created: 29 Jul 2022, 5:53 a.m. | Last Modified: 29 Jul 2022, 5:53 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 2 #614607
Di Milnes (Genetic Health Queensland)
single case SOD (absent septum pellucidum, absent corpus callosum, ventriculomegaly, aqueductal stenosis ONH), a ventricular septal defect and a patent foramen ovale, 13 pairs of ribs, bilateral clinodactyly, single palmar crease, broad large toe with hypoplastic nail, cleft palate, choanal atresia, seizures, apnoea, and dysmorphic facial features, including down-slanting palpebral fissures, long columella, low-set and posteriorly rotated ears, depressed nasal bridge, scant hair due to premature birth; he died at 6 weeks of age.
Mosaic truncating variant confirmed de novo Sanger sequencing (33% exome reads, lower peak on Sanger)
Sources: LiteratureCreated: 29 Jul 2022, 4:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 2 #614607
Publications
Crystle Lee (Victorian Clinical Genetics Services)
Well reported in CSS patientsCreated: 7 Sep 2020, 12:40 a.m. | Last Modified: 7 Sep 2020, 12:40 a.m.
Panel Version: 0.4242
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Coffin-Siris syndrome 2 (MIM#614607)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Coffin-Siris syndrome 2 #614607
- OMIM
- 603024
- Clinvar variants
- Variants in ARID1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Callosome
- Genetic Epilepsy
- Hand and foot malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arid1a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arid1a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Di Milnes (Genetic Health Queensland)gene: ARID1A was added gene: ARID1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 35885948 Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 #614607 Review for gene: ARID1A was set to AMBER