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Severe microcephaly v6.6 SASS6 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SASS6.
Severe microcephaly v6.6 SASS6 Eleanor Williams edited their review of gene: SASS6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Severe microcephaly v6.5 SASS6 Sarah Leigh Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SASS6.
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Classified gene: SASS6 as Amber List (moderate evidence)
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are two additional unrelated cases reported with severe microcephaly (HC was beyond -4 SD in both cases). Hence, this gene can be promoted to green rating in the next GMS update.
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Gene: sass6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v5.14 SASS6 Achchuthan Shanmugasundram Publications for gene: SASS6 were set to 24951542; 30639237
Severe microcephaly v5.13 SASS6 Achchuthan Shanmugasundram Phenotypes for gene: SASS6 were changed from ?Microcephaly 14, primary, autosomal recessive, OMIM:616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402
Severe microcephaly v5.12 SASS6 Achchuthan Shanmugasundram reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 14, primary, autosomal recessive, OMIM:616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.67 SASS6 Zornitza Stark edited their review of gene: SASS6: Added comment: Two additional families:

PMID: 38501757
1x compound het for a fs and +3 splice variant.

Using cDNA RT-ed from mother's RNA, exons 13-15 were amplified and exon 14 was found to be skipped resulting in c.1546_1674del and p.516_558del

PMID: 36739862
1x family, compound het for 2 missense
Functional studies not performed; Changed rating: GREEN; Changed publications to: 24951542, 30639237, 38501757, 36739862
Severe microcephaly v2.182 SASS6 Eleanor Williams Classified gene: SASS6 as Amber List (moderate evidence)
Severe microcephaly v2.182 SASS6 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber as now two cases reported with severe microcephaly. Pubmed search did not find further cases at this time.
Severe microcephaly v2.182 SASS6 Eleanor Williams Gene: sass6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.181 SASS6 Eleanor Williams Phenotypes for gene: SASS6 were changed from autosomal recessive primary microcephaly (MCPH); ?Microcephaly 14, primary, autosomal recessive, 616402 to ?Microcephaly 14, primary, autosomal recessive, OMIM:616402
Severe microcephaly v2.180 SASS6 Eleanor Williams edited their review of gene: SASS6: Changed phenotypes to: ?Microcephaly 14, primary, autosomal recessive, OMIM:616402
Severe microcephaly v2.180 SASS6 Eleanor Williams changed review comment from: Provisionally associated with ?Microcephaly 11, primary, autosomal recessive #615414 (AR) in OMIM.

PMID: 24951542 - Khan et al 2014 - large consanguineous Pakistani family with 4 patients diagnosed with autosomal recessive primary microcephaly (MCPH). Sequencing of genes following homozygosity mapping identified a homozygous missense variant in HsSAS-6 (c.185T>C, p.Ile62Thr ). Analysed unaffected individuals were either heterozygous for this variant, or had two wild type alleles. All 4 affected individuals had severe microcephaly (occipitofrontal circumference ranged from -6.63 to -19.6 SD).

PMID: 30639237 - Zhang et al 2019 - report a non-consanguineous Chinese family in which two foetuses were identified with microcephaly. In the later pregnancy the foetus had a head circumference -4 SD at 24 weeks of gestation. Compound heterozygous splice variants in SASS6 were identified by WES ( c.127-13A>G and c.1867+2T>A), one inherited from each of the parents. RT-PCR confirmed the effect on splicing.; to: Provisionally associated with ?Microcephaly 14, primary, autosomal recessive #616402 (AR) in OMIM.

PMID: 24951542 - Khan et al 2014 - large consanguineous Pakistani family with 4 patients diagnosed with autosomal recessive primary microcephaly (MCPH). Sequencing of genes following homozygosity mapping identified a homozygous missense variant in HsSAS-6 (c.185T>C, p.Ile62Thr ). Analysed unaffected individuals were either heterozygous for this variant, or had two wild type alleles. All 4 affected individuals had severe microcephaly (occipitofrontal circumference ranged from -6.63 to -19.6 SD).

PMID: 30639237 - Zhang et al 2019 - report a non-consanguineous Chinese family in which two foetuses were identified with microcephaly. In the later pregnancy the foetus had a head circumference -4 SD at 24 weeks of gestation. Compound heterozygous splice variants in SASS6 were identified by WES ( c.127-13A>G and c.1867+2T>A), one inherited from each of the parents. RT-PCR confirmed the effect on splicing.
Severe microcephaly v2.180 SASS6 Eleanor Williams Publications for gene: SASS6 were set to 24951542
Severe microcephaly v2.179 SASS6 Eleanor Williams reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: ?Microcephaly 11, primary, autosomal recessive, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v2.20 SASS6 Zornitza Stark reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v1.62 SASS6 Louise Daugherty reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 SASS6 Louise Daugherty Source NHS GMS was added to SASS6.
Severe microcephaly SASS6 Rebecca Foulger commented on SASS6